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1.
J Med Genet ; 43(8): 660-4, 2006 Aug.
Article in English | MEDLINE | ID: mdl-16882740

ABSTRACT

BACKGROUND: A marker chromosome is defined as a structurally abnormal chromosome that cannot be identified by routine cytogenetics. The risk for phenotypic abnormalities associated with a marker chromosome depends on several factors, including inheritance, mode of ascertainment, chromosomal origin, and the morphology, content, and structure of the marker. METHODS: to understand the karyotype-phenotype relationship of prenatally ascertained supernumerary de novo marker chromosomes, we combined data from prenatal cases obtained from 12 laboratories with those from studies in the literature. We were able to obtain cytogenetic and phenotypic data from 108 prenatally ascertained supernumerary de novo marker chromosomes to refine the phenotypic risk associated with these markers. Because of the growing number of cases and because more techniques are available to delineate marker morphology, we have been able to group risk estimates into subcategories, such as by marker type and whether there are ultrasound abnormalities. RESULTS: If a de novo supernumerary marker chromosome is found prenatally, our data suggest there is a 26% risk for phenotypic abnormality when there is no other information defining the marker (such as chromosomal origin or information about the existing phenotype). However, if high resolution ultrasound studies are normal, this risk reduces to 18%. CONCLUSIONS: Our findings strongly support the value of additional genetic studies for more precisely defining the risk in individual cases involving marker chromosomes.


Subject(s)
Chromosome Aberrations , Cooperative Behavior , Prenatal Diagnosis , Female , Humans , Phenotype , Pregnancy , Risk Factors
2.
Am J Med Genet ; 100(1): 13-24, 2001 Apr 15.
Article in English | MEDLINE | ID: mdl-11337743

ABSTRACT

A patient with dir dup 2(q37.1q33.1) is described. Literature review of chromosome 2q duplications suggests a consistent, though nonspecific, facial phenotype. Segregation of those cases that are "pure" duplications from those with accompanying monosomy for another chromosome suggests that a cleft palate may not be attributable to the duplicated segment.


Subject(s)
Chromosome Aberrations , Chromosomes, Human, Pair 2/genetics , Adolescent , Adult , Child , Child, Preschool , Chromosome Banding , Female , Gene Duplication , Humans , Infant , Infant, Newborn , Male , Middle Aged
3.
Cancer Genet Cytogenet ; 118(2): 144-7, 2000 Apr 15.
Article in English | MEDLINE | ID: mdl-10748295

ABSTRACT

Supernumerary ring chromosomes varying with respect to both size and number were found as the primary cytogenetic anomaly in a rare benign soft tissue chondroma resected from the floor of the mouth of a 3-year-old girl. Reverse fluorescence in situ hybridization paint probes prepared by polymerase chain reaction from microdissected rings produced fluorescent signal over two large but discontinuous parts of the chromosome 12 long arm, subdivided into four regions. This case expands the spectrum of mesenchymal neoplasms in which ring chromosomes have been described as the primary genetic anomaly. A review of the literature reporting similar findings in other soft tissue tumors further supports the possibility that low-level amplification of chromosome 12 long-arm regions may contribute to abnormal cellular proliferation in a variety of mesenchymal tumors. Genes implicated in the control of the cell cycle such as sarcoma amplified sequence (SAS), the human homolog of the murine double-minute type 2 gene (MDM-2), proto-oncogenes CHOP/GADD153, GLI, A2MR, cyclin-dependent kinase (CDK4), and the high mobility group (HMGIC) gene implicated in mesenchymal tumorigenesis are all located on the long arm of chromosome 12. Chromosomal abnormalities involving the 12q13-q15 region are associated with a wide range of benign soft tissue tumors and sarcomas.


Subject(s)
Chondroma/genetics , Chromosomes, Human, Pair 12 , Mouth Neoplasms/genetics , Ring Chromosomes , Child, Preschool , Chondroma/pathology , Female , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Mouth Neoplasms/pathology
4.
Cytogenet Cell Genet ; 86(3-4): 194-203, 1999.
Article in English | MEDLINE | ID: mdl-10575205

ABSTRACT

The physical and genetic characterization of a stable human minichromosome in a Chinese hamster hybrid cell is described. The minichromosome is 2-3 Mb in size, is linear, and contains a complementing SDHC gene. It is derived from a human chromosome 1, including the centromere, some pericentric heterochromatin from 1q12, and 1-2 Mb of 1q21. Genomic DNA surrounding the SDHC gene was used to construct a targeting vector with a selectable drug resistance marker (neo(R)); the marker was then successfully integrated into the minichromosome. With the new selectable marker, the 8.2.3 minichromosome could be transferred into mouse LMTK(-) and 3T3 TK(-) cells.


Subject(s)
Chromosomes, Human, Pair 1 , Chromosomes, Human , Succinate Dehydrogenase/genetics , Animals , Cardiopulmonary Resuscitation , Cell Line , Chromosome Mapping , Cricetinae , Cricetulus , Electrophoresis, Gel, Pulsed-Field , Gene Transfer Techniques , Humans , Hybrid Cells , In Situ Hybridization, Fluorescence , Karyotyping , L Cells , Mice , Thymidine Kinase/deficiency , Thymidine Kinase/genetics
5.
Am J Hum Genet ; 65(1): 104-10, 1999 Jul.
Article in English | MEDLINE | ID: mdl-10364522

ABSTRACT

Vertebrates have four clusters of Hox genes (HoxA, HoxB, HoxC, and HoxD). A variety of expression and mutation studies indicate that posterior members of the HoxA and HoxD clusters play an important role in vertebrate limb development. In humans, mutations in HOXD13 have been associated with type II syndactyly or synpolydactyly, and, in HOXA13, with hand-foot-genital syndrome. We have investigated two unrelated children with a previously unreported pattern of severe developmental defects on the anterior-posterior (a-p) limb axis and in the genitalia, consisting of a single bone in the zeugopod, either monodactyly or oligodactyly in the autopod of all four limbs, and penoscrotal hypoplasia. Both children are heterozygous for a deletion that eliminates at least eight (HOXD3-HOXD13) of the nine genes in the HOXD cluster. We propose that the patients' phenotypes are due in part to haploinsufficiency for HOXD-cluster genes. This hypothesis is supported by the expression patterns of these genes in early vertebrate embryos. However, the involvement of additional genes in the region could explain the discordance, in severity, between these human phenotypes and the milder, non-polarized phenotypes present in mice hemizygous for HoxD cluster genes. These cases represent the first reported examples of deficiencies for an entire Hox cluster in vertebrates and suggest that the diploid dose of human HOXD genes is crucial for normal growth and patterning of the limbs along the anterior-posterior axis.


Subject(s)
DNA-Binding Proteins , Homeodomain Proteins/genetics , Limb Deformities, Congenital/genetics , Transcription Factors , Child, Preschool , Chromosomes, Human, Pair 2 , Gene Deletion , Gene Dosage , Genetic Markers , Genitalia, Male/abnormalities , Humans , Infant, Newborn , Limb Deformities, Congenital/diagnostic imaging , Male , Molecular Sequence Data , Multigene Family , Radiography
6.
Gene ; 213(1-2): 133-40, 1998 Jun 15.
Article in English | MEDLINE | ID: mdl-9714607

ABSTRACT

Complex II of mitochondria contains succinate dehydrogenase and subunits to link this enzyme directly to the inner mitochondrial membrane. The four peptides of this complex are the flavoprotein (Fp) and iron-sulfur protein (Ip) of the dehydrogenase, and two integral membrane proteins referred to as C(II-3) and C(II-4). Their respective genes in mammals are SDHA, SDHB, SDHC and SDHD) in order of decreasing molecular weights of the peptides. In this paper we describe the identification of two pseudogenes and the complete characterization and mapping of the active SDHC gene in humans. The active gene, encoding a small peptide of 15.5 kDa, has six exons and five introns extending over 35 kb. It has been mapped at position 1q21, adjacent to the pericentric heterochromatin on the long arm of chromosome 1. Approximately I kb of the promoter region has also been sequenced and examined for sequence motifs suggesting the binding of known transcription factors. Several potential sites for the nuclear respiratory factors NRF-1 and NRF-2 were identified.


Subject(s)
Chromosomes, Human, Pair 1/genetics , Genes , Membrane Proteins/genetics , Amino Acid Sequence , Animals , Base Sequence , Binding Sites , Cattle , Chromosome Mapping , DNA-Binding Proteins/metabolism , Exons , GA-Binding Protein Transcription Factor , Gene Library , Humans , In Situ Hybridization, Fluorescence , Introns , Mitochondria/enzymology , Molecular Sequence Data , NF-E2-Related Factor 1 , Nuclear Respiratory Factor 1 , Nuclear Respiratory Factors , Promoter Regions, Genetic , Pseudogenes , Sequence Alignment , Sequence Homology, Nucleic Acid , Trans-Activators/metabolism , Transcription Factors/metabolism
7.
Am J Med Genet ; 70(1): 37-42, 1997 May 02.
Article in English | MEDLINE | ID: mdl-9129739

ABSTRACT

A female patient with the karyotype 45,X/46, X, r(X)(p11.2 q13) and severe developmental delay, prominent fingertip pads, long palpebral fissures, short stature, and history of hypotonia had a phenotype reminiscent of Kabuki syndrome. We hypothesized that overexpression of X chromosome-derived sequences might be associated with the Kabuki-like phenotype observed. The nature and parental origin of this small-ring X were ascertained using a combination of genotyping with microsatellite markers and quantitative Southern blotting. PCR-based genotyping demonstrated heterozygosity at X-linked loci SBMA (Xq11-q12) and DXS227 (Xq13.1). Hemizygosity was observed at several loci: DMD STR-49 (Xp21.2), DXS1003 (Xp11.23), DXS988 (Xp11.21), DXS101 (Xq21.3), FMR-1 (Xq27.3), and DXYS64 (Xq28). This ring X chromosome is paternally derived since only maternal alleles are inherited at three informative microsatellite loci. Results of FISH and RT-PCR experiments indicate that the XIST locus is missing in the ring X chromosome and not expressed. These data indicated a large deletion of the X chromosome consistent with a small-ring X chromosome with approximate breakpoints near p11.2 and q13. These results are comparable to the observation of others where an atypically severe phenotype has been associated with the presence of an r(X), or small mar(X).


Subject(s)
Abnormalities, Multiple/genetics , Face/abnormalities , Ring Chromosomes , X Chromosome , Child , Chromosome Mapping , Female , Genetic Markers , Genomic Imprinting , Genotype , Heterozygote , Humans , Karyotyping , Male , Microsatellite Repeats , Polymerase Chain Reaction
8.
Gynecol Oncol ; 58(3): 336-43, 1995 Sep.
Article in English | MEDLINE | ID: mdl-7672698

ABSTRACT

We introduce a new epithelial ovarian carcinoma cell line (UCI 107) from a patient with papillary adenocarcinoma of the ovary who had not been previously treated. The growth characteristics, chemosensitivity, tumorgenicity, cytogenetics, antigen expression, and receptor status were examined. A standardized photometric assay was implemented to determine the response to single drug agents including doxorubicin (ADR), cisplatin (CDDP), and Taxol. Tumorgenicity was determined utilizing female athymic mice implanted either subcutaneously (sc) or intraperitoneally (ip) with 1 x 10(7) UCI 107 cells. UCI 107 cells grow rapidly in culture with lag phase of approximately 48 hr, population doubling time of 24-36 hr, and saturation density of 4.8 x 10(5) cells/cm2. The 50% inhibitory concentration values for the chemotherapeutic agents were 0.170, 0.029, and 0.330 microM for ADR, Taxol, and CDDP, respectively. Nude mice produced ip tumors within 15 days, resulting in death from carcinomatosis 40-45 days postimplantation. Subcutaneous tumor nodules (100 mm3) were observed in nude mice 12-13 days post-tumor implantation reaching a maximum tumor volume of approximately 10,000 mm3 by Day 30. The cytogenetic composite karyotype is as follows: 46, X, der (X) t (X;7) (p11;q22), inv dup (1) (q12;q32), t (6;6;11;22) (p21.3;q16;q23.3;q13.3), del (13) (q14.1). The cell line expresses progesterone receptor, increased levels of p53 protein, and cytokeratins. It does not appear to express Her-2/neu protein, estrogen receptor, nor the CA 125 tumor marker. In conclusion, UCI 107 displays unique cellular properties which make it an attractive model for the study of ovarian cancer.


Subject(s)
Carcinoma/pathology , Ovarian Neoplasms/pathology , Animals , Antigens, Neoplasm/metabolism , Carcinoma/genetics , Cell Division , Chromosome Mapping , Female , Humans , Mice , Mice, Nude , Middle Aged , Neoplasm Transplantation , Ovarian Neoplasms/genetics , Receptors, Cell Surface/metabolism , Transplantation, Heterologous , Tumor Cells, Cultured
9.
Gynecol Oncol ; 57(2): 191-8, 1995 May.
Article in English | MEDLINE | ID: mdl-7729733

ABSTRACT

Squamous carcinoma of the vulva (SCV) is an uncommon neoplasm of uncertain etiology. There is evidence that there are two subgroups of SCV, one associated with human papilloma virus (HPV) and a second HPV-negative group. The UCI-VULV-1 cell line, obtained from a lymph node metastasis of an SCV, grows with a population doubling time of approximately 60 hr. The saturation density is 10(5) cells/cm2. The cell line does not exhibit anchorage independence and is weakly tumorigenic. The cells range in appearance from an abundant spindle cell to a less common larger, flat cell. All of the cells are immunoreactive for high-molecular-weight keratin, but only the flat cells, which form squamous pearls in vivo, are immunoreactive for low-molecular-weight keratin. The cell line expresses epidermal growth factor (EGF), transforming growth factor-alpha, the EGF receptor, and p53 protein. Polymerase chain reaction revealed no HPV DNA within the cells. Early passage cells exhibited karyotypic heterogeneity with few similarities to previous described SCV karyotypes. The cells display sensitivity to cis-platinum in concentrations toxic to many ovarian and cervical carcinoma lines. UCI-VULV-1 may be helpful for studying the properties of the HPV-negative form of SCV.


Subject(s)
Carcinoma, Squamous Cell/pathology , Tumor Cells, Cultured , Vulvar Neoplasms/pathology , Aged , Cell Division , DNA Probes, HPV , Female , Humans , Karyotyping , Tumor Cells, Cultured/pathology , Tumor Cells, Cultured/virology
10.
Proc Natl Acad Sci U S A ; 92(8): 3120-3, 1995 Apr 11.
Article in English | MEDLINE | ID: mdl-7724525

ABSTRACT

Injecting male embryonic stem cells into the blastocoel of female embryos occasionally produces female chimeras capable of transmitting the embryonic stem cell genome. In our experiments several embryonic stem cell-derived male offspring from female chimeras were observed to be infertile. Karyotypic analysis of these infertile animals revealed aneuploidy. We examined the karyotypes of an additional 14 offspring not selected for infertility (3 females and 11 males) that had received the embryonic stem cell genome from 5 transmitting female chimeras. The 3 females and 5 of the males had normal karyotypes. Six of the males exhibited nonmosaic aneuploidy, which included four XXY karyotypes, one XYY karyotype, and an X,i(Y) karyotype. The high incidence of XXY and XYY males supports previous evidence for aberrant pairing and segregation of X and Y chromosomes when they are present in oocytes.


Subject(s)
Aneuploidy , Sex Chromosome Aberrations , Sex Differentiation/genetics , Stem Cell Transplantation , Transplantation Chimera , Animals , Cell Transplantation , Chromosome Banding , Female , Infertility, Male , Karyotyping , Klinefelter Syndrome , Male , Meiosis , Mice , Mice, Inbred C57BL , XYY Karyotype
11.
Cancer Genet Cytogenet ; 77(1): 50-4, 1994 Oct.
Article in English | MEDLINE | ID: mdl-7923083

ABSTRACT

Fluorescence in situ hybridization utilizing a probe for the alpha satellite repeat sequence on chromosome 11 was used to detect variations in the number of chromosomes 11 in 24 formalin-fixed, paraffin-embedded congenital mesoblastic nephromas. Evidence of trisomy 11 was found in nearly half of the tumors. More importantly, the presence of trisomy 11 was associated with the cellular histologic variant of this tumor.


Subject(s)
Chromosomes, Human, Pair 11 , Kidney Neoplasms/genetics , Nephroma, Mesoblastic/complications , Nephroma, Mesoblastic/genetics , Trisomy , Humans , In Situ Hybridization, Fluorescence , Kidney Neoplasms/pathology , Nephroma, Mesoblastic/pathology
12.
Prenat Diagn ; 14(3): 163-5, 1994 Mar.
Article in English | MEDLINE | ID: mdl-8052562

ABSTRACT

We report the detection of a mosaic triple trisomy, 46,XY/49,XY,+13,+20,+21, in two amniotic fluid specimens obtained from a pregnancy that yielded a normal infant. Traditional cytogenetic methods failed to detect the abnormal cell lineage in fetal blood, foreskin, amnion, umbilical cord, and three different biopsies of the chorion. In addition, fluorescence in situ hybridization study of cells from a buccal smear showed no evidence of cells with three copies of chromosome 20.


Subject(s)
Chromosomes, Human, Pair 13 , Chromosomes, Human, Pair 20 , Chromosomes, Human, Pair 21 , Fetus/physiology , Mosaicism , Trisomy , Amniocentesis , Amnion/cytology , Cells, Cultured , Female , Humans , Karyotyping , Male , Phenotype , Pregnancy , Reference Values
13.
Cancer Genet Cytogenet ; 69(1): 65-7, 1993 Aug.
Article in English | MEDLINE | ID: mdl-8374902

ABSTRACT

We report results of the first cytogenetic study of an osteoblastoma. Cells from the tumor were characterized by a three-way unbalanced translocation involving chromosomes 15, 17, and 20. As a consequence of the translocation, most of one chromosome 17 short arm appears to have been lost. This loss suggests the possibility that loss of 17p DNA sequences may be involved in early changes leading to neoplastic proliferation of osteoblasts.


Subject(s)
Bone Neoplasms/genetics , Chromosome Deletion , Chromosomes, Human, Pair 17 , Osteoma, Osteoid/genetics , Translocation, Genetic , Bone Neoplasms/diagnostic imaging , Bone Neoplasms/pathology , Child , Chromosomes, Human, Pair 15 , Chromosomes, Human, Pair 20 , Humans , Karyotyping , Male , Osteoma, Osteoid/diagnostic imaging , Osteoma, Osteoid/pathology , Tomography, X-Ray Computed
14.
Genes Chromosomes Cancer ; 7(4): 227-30, 1993 Aug.
Article in English | MEDLINE | ID: mdl-7692949

ABSTRACT

We present the case of a 14-year-old girl in whom a myelodysplastic syndrome was diagnosed 9 months after surgical resection and chemotherapy for an ovarian germ cell tumor. Cells from her marrow were characterized by trisomy 8 and an isochromosome 12p, a marker that appears to be unique to germ cell tumors. The presence of the same two anomalies in her original tumor was demonstrated by fluorescence in situ hybridization study of interphase cells in paraffin-embedded tissues and thus provided strong evidence that the two neoplasms had a common clonal origin.


Subject(s)
Myelodysplastic Syndromes/etiology , Neoplasms, Germ Cell and Embryonal/genetics , Ovarian Neoplasms/genetics , Adolescent , Chromosome Banding , Chromosomes, Human, Pair 12 , Chromosomes, Human, Pair 8 , Clone Cells , Combined Modality Therapy , Female , Humans , Karyotyping , Neoplasms, Germ Cell and Embryonal/complications , Neoplasms, Germ Cell and Embryonal/drug therapy , Neoplasms, Germ Cell and Embryonal/surgery , Ovarian Neoplasms/complications , Ovarian Neoplasms/drug therapy , Ovarian Neoplasms/surgery , Trisomy
15.
Pediatr Pathol ; 13(4): 435-41, 1993.
Article in English | MEDLINE | ID: mdl-8396768

ABSTRACT

We report the karyotype analysis of a congenital mesoblastic nephroma (CMN), a usually benign renal tumor occurring most commonly during early infancy. The tumor was composed of interlacing bundles of spindle-shaped cells and it displayed both the classic and cellular histologic patterns. Immunoperoxidase studies showed reactivity for vimentin and actin. The tumor cell karyotype included additional chromosomes 11 and an altered chromosome 12. Trisomy or tetrasomy of chromosome 11 is present in five of six reported cases and may represent a frequent alteration in the karyotype of the CMN. Furthermore, breakpoints in the q13-15 region of chromosome 12 are commonly seen in leiomyomas, which are histologically similar to the CMN. Thus, the karyotype described here illustrates another similarity between the two tumor types.


Subject(s)
Chromosome Aberrations/genetics , Chromosomes, Human, Pair 11 , Chromosomes, Human, Pair 12 , Kidney Neoplasms/genetics , Wilms Tumor/genetics , Chromosome Disorders , Female , Humans , Infant, Newborn , Karyotyping , Kidney Neoplasms/congenital , Kidney Neoplasms/pathology , Leiomyoma/genetics , Wilms Tumor/congenital , Wilms Tumor/pathology
16.
Cancer Genet Cytogenet ; 58(2): 141-2, 1992 Feb.
Article in English | MEDLINE | ID: mdl-1551077

ABSTRACT

Cytogenetic study of a mesenchymal hamartoma of the liver detected a balanced translocation between chromosomes 11 and 19 in a 6-month-old male whose constitutional karyotype was normal. The chromosome 19 breakpoint, 19q13.4, appears to be identical to one of the breakpoints identified in the only other mesenchymal hamartoma studied with cytogenetic methods.


Subject(s)
Chromosomes, Human, Pair 19 , Hamartoma/genetics , Hamartoma/pathology , Liver Neoplasms/genetics , Liver Neoplasms/pathology , Translocation, Genetic , Chromosome Banding , Chromosomes, Human, Pair 11 , Follow-Up Studies , Hamartoma/diagnostic imaging , Hamartoma/surgery , Humans , Infant , Karyotyping , Liver Neoplasms/diagnostic imaging , Liver Neoplasms/surgery , Magnetic Resonance Imaging , Male , Tumor Cells, Cultured , Ultrasonography
17.
Am J Med Genet ; 38(1): 37-42, 1991 Jan.
Article in English | MEDLINE | ID: mdl-2012130

ABSTRACT

We report on an 11-year experience in which cell culture synchronization and other methods for improving cytogenetic detail were used to study 2,245 patients presenting with malformations and (usually) developmental delay. Not including patients presenting with one of the so-called "contiguous gene syndromes," 30 patients (1.1% of the study population) were found to have karyotypes characterized by structural alterations that were either subtle enough to be judged undetectable in standard metaphase preparations or subtle enough to have escaped detection in previous banded studies. Analysis of the detail available for 6 chromosome pairs suggests that the average banding detail available for these analyses fell short of that considered to be "high-resolution" but was, nevertheless, more than would have been expected from standard metaphase preparations.


Subject(s)
Chromosome Banding , Congenital Abnormalities/diagnosis , Female , Humans , Karyotyping , Male
18.
Cancer Genet Cytogenet ; 47(2): 243-7, 1990 Jul 15.
Article in English | MEDLINE | ID: mdl-2162734

ABSTRACT

Karyotypic study of two hepatoblastomas revealed trisomies for chromosome 20 and the presence of double minutes (dmin). These cases are the second and third examples of trisomy 20 in hepatoblastoma and are the first examples of dmins in this rare childhood tumor.


Subject(s)
Carcinoma, Hepatocellular/genetics , Chromosomes, Human, Pair 20 , Liver Neoplasms/genetics , Trisomy , Humans , Infant , Karyotyping , Male
19.
Cancer Genet Cytogenet ; 38(1): 9-12, 1989 Mar.
Article in English | MEDLINE | ID: mdl-2713819

ABSTRACT

Multiple inserted duplications of bands 3q21 through 3q27 and a duplication of the chromosome 1 long arm are reported in a karyotypically altered clone from a dysmorphic child with myelodysplasia.


Subject(s)
Chromosome Aberrations , Chromosomes, Human, Pair 1 , Chromosomes, Human, Pair 3 , Myelodysplastic Syndromes/genetics , Adolescent , Female , Humans
20.
Am J Med Genet ; 32(1): 112-4, 1989 Jan.
Article in English | MEDLINE | ID: mdl-2705472

ABSTRACT

We describe a chromosome 22 deletion in a patient with the DiGeorge malformation sequence as manifested by an interrupted aortic arch, mild thymic hypoplasia, and minor craniofacial anomalies. Although others have reported DiGeorge sequence patients with deletions derived from unbalanced translocations involving the chromosome 22 long arm, the small interstitial deletion described here appears to be unusual for patients with this disorder.


Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 22 , DiGeorge Syndrome/genetics , Immunologic Deficiency Syndromes/genetics , Aorta, Thoracic/abnormalities , Chromosome Banding , Facial Bones/abnormalities , Female , Humans , Infant, Newborn , Karyotyping , Skull/abnormalities
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