Cytogenetic and clinical analysis of a patient with partial trisomy 5p / 国际检验医学杂志

Objective To further explore the relationship between increasing genetic material and clinical manifestation of partial trisomy 5p .Methods G‐banding karyotypes of peripheral blood lymphocytes in the patient and his parents ,and at the same time to summary the partial trisomy 5p clinical performance .Results patient ,46 ,XX ,der(6)t(5 ;6)(p13;q25) mat ;partial trisomy for 5p13→pter resulting from the balanced translocation of the mother .Mother:46 ,XX ,t(5;6)(p13 ;q25);carrier of a balanced 5/6 translocation .Father :46 ,XY .Conclusion The phenotype of trisomy 5p may be associated with express and function of gene at spe‐cial chromosome region .

Diagnosis of an uncertain karyotype and mentally retarded child using the whole genome microarray scanning technique / 临床儿科杂志

Objective To investigate the possibility and feasibility of the whole genome microarray scanning technique in clinical cytogenetic diagnosis of an uncertain karyotype and mentally retarded child. Methods The karyotype analysis of the mental development delayed child was 47, XY+mar. Genomic DNA was extracted from the peripheral blood and the whole genome microarray scanning technique was used to analyze the derivative chromosome. Results The whole genome microar-ray scanning technique indicated the derivative chromosome fragment had originated from 9p13.1-p24.3. Conclusions Com-paring to conventional cytogenetic analysis methods, the whole genome microarray scanning technique is of high resolution, high-throughput and high accuracy, which can detect the submicroscopic chromosomal aberrations and replace the conven-tional karyotype analysis.

A case of partial trisomy 3p syndrome with rare clinical manifestations / 소아과

Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4) (p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor.

A case of partial trisomy 3p syndrome with rare clinical manifestations / 소아과

Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4) (p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor.

Repetitive Pregnancy Loss in inv(22)(p13q12) Carrier

Pericentric inversion is not rare in humans and is usually benign. However, pericentric inversion can lead to production of an unbalanced recombinant and might be a cause of repetitive pregnancy loss. Pericentric inversion of chromosome 22 is rare and only a few cases have been reported. We report a case of inv(22)(p13q12) carrier who had history of repetitive pregnancy loss including three spontaneous abortions and one fetal hydrops in which the chromosomal complement was rec(22)dup(22q) inv(22)(p13q12)mat. The maternal inv(22) and fetal rec(22) were confirmed by fluorescence in situ hybridization using region-specific probes (TUPLE1 on 22q11.2 and ARSA on 22q13). Because the identification of inv(22) or rec(22) in conventional karyotyping might be easily overlooked, great attention and additional molecular tests are required for accurate diagnosis of inv(22) and rec(22).

A Case of Partial Trisomy 2p23-pter Syndrome with Trisomy 18p Due to a de novo Supernumerary Marker Chromosome / 대한진단검사의학회지

Partial trisomy 2p is a rare but relatively well-defined syndrome with distinctive clinical features, including marked psychomotor delay, dysmorphic face, and congenital heart disease. The phenotype of trisomy 18p is variable, from normal appearance to moderate mental retardation. Most cases of trisomy 2p and trisomy 18p result from the inheritance of an unbalanced segregant from a balanced parental translocation or due to de novo duplication. Here, we present the first report of a combined partial trisomy 2p and trisomy 18p due to a supernumerary marker chromosome (SMC). The final karyotype of the patient was 47,XX,+der(18)t(2;18)(p23.1;q11.1)[22]/46,XX[8]. The patient had typical dysmorphic features of partial trisomy 2p23-pter syndrome and congenital heart disease. SMCs are remarkably variable in euchromatic DNA content and mosaicism level. The precise identification of the origin and composition of SMCs is essential for genotype-phenotype correlation and genetic counseling.

Partial trisomy of chromosome 18q11.2-q12: A case report / 소아과

Edwards syndrome, also called trisomy 18, is one of the most common autosomal anomalies. The survival rate of patients with Edwards syndrome is very low and its characteristic findings include cardiac malformations, mental retardation, growth retardation, specific craniofacial anomalies, clenched hands, rocker-bottom feet, and omphalocele. Compared with the classic Edwards syndrome, the symptom of partial duplication of chromosome 18 is relatively mild with a good prognosis. We report the case of a baby with partial duplication 18q11.2-q12. The characteristic phenotype features of Edwards syndrome were observed in the patient. However, the symptom was milder than the typical Edwards syndrome. At present, we can expect better prognosis for this patient.

The clinical phenotype of the derivative (8)t(7;8)(q22;p23.3) in two siblings / 소아과

We report on 2 siblings with a partial trisomy of 7q (7q22-->qter) and concomitant partial monosomy of 8p (8p23.3-->pter), which were shown by FISH using probes located at the telomere region of each chromosome. All the balanced translocation carriers (father and a sister) in this family had a normal phenotype. The 2 siblings with the same abnormal karyotype had similar multiple congenital anomalies and dysmorphic features. During the follow-up, the first male patient died in the neonatal period, but the female sibling is still alive at 2 years and 6 months of age.

Partial Trisomy 1q41 Syndrome Delineated by Whole Genomic Array Comparative Genome Hybridization

Partial trisomy 1q syndrome is a rare chromosomal abnormality. We report on a male infant with 46,XY,der(11)t(1;11)(q41;p15.5) due to unbalanced segregation of the maternal reciprocal balanced translocation 46,XX,t(1;11)(q41;p15.5). The baby presented with a mild phenotype, characterized by a triangular face, almond-shaped eyes, low ears, short stature with relatively long legs, and mild psychomotor retardation. We utilized whole genomic array comparative genome hybridization (CGH) with 4,000 selected bacterial artificial chromosomes (BACs) to define the chromosomal breakpoints and to delineate the extent of the partial trisomy in more detail. To our knowledge, this is the first case of nearly pure "partial trisomy 1q41" defined by whole genomic array CGH.

Dandy-Walker malformations in a case of partial trisomy 9p (p12.1→pter) due to maternal translocation t(9;12)(p12.1;p13.3).

We describe a five-year-old proband presented with Dandy-Walker malformations, right microopthalmia, hamstring contractures, undescended testis with absence of testis in right scrotum in addition to typical trisomy 9p clinical features. Routine cytogenetic studies with GTG - banding showed 46,XY,der(12)t(9;12) (p12;q13.3),mat karyotype (trisomy 9p). Chromosomal analysis of the father was normal and phenotypically normal mother had 46,XX,t(9;12)(p12;q13) karyotype. Fluorescence in situ hybridization analysis with single copy probes bA5OIA2 (9p11.2), bA562M8 (12p12.1) and centromere probes (9) showed break point at 9p12.1 region. The gene dosage effect of Chromosome 9p along with environmental factors might be associated with Dandy- Walker malformations in the patient.

Prenatal diagnosis of partial trisomy 3q with omphalocele in the first trimester of pregnancy / 대한산부인과학회지

Abnormal offsprings from balanced translocation carriers usually inherit only one of the translocated products and are therefore partially trisomic for one chromosome and partially monosomic for another. Partial trisomy 3q usually demonstrates characteristic facial appearance, developmental delay, brain and ocular anomalies, severe growth retardation, congenital heart disease, renal and genitourinary malformations, omphalocele, and skeletal and limb anomalies with a wide range of characteristics and severities. It has been reported in a few individuals in the world and this is the first report of partial trisomy 3q in Korea. We present the case of partial trisomy 3q with omphalocele from maternal balanced translocation, which was prenatally diagnosed by chorionic villi sampling based on abnormal ultrasonographic findings.

A Case of Partial Trisomy 9p Syndrome with 3-Ketothiolase Deficiency / 대한소아신경학회지

Trisomy 9p syndrome was first described by Rethore et al in 1970 and about 150 cases have been reported. The characteristic features of the partial trisomy 9p syndrome is clearly recognizable faces, which include microcephaly, facial deformities, skeletal and dermatoglyphic anomalies with variable degrees of mental retardation. The 3-ketothiolase deficiency was first described in 1971 and about 30 cases have been reported. The 3-ketothiolase deficeiency is an inborn error of isoleucine and ketone body catabolism that shows autosomal recessive traits, caused by a deficiency of mitochondrial acetoacetyl-coenzyme A thiolase(T2). We report a case of partial trisomy 9p syndrome with 3-ketothiolase deficeiency in a 4-years-old female. The karyotype of the patient was confirmed as 46,XY, add(9)(p23) mat. In the urine organic acid test, 3-ketothiolase deficiency was reported.

Trisomía parcial del cromosoma 9. Reporte de un caso / Partial trisomy of chromosome 9. A case report

La evidencia citogenética de una trisomía del cromosoma 9, ya sea de todo o parte del brazo corto, con o sin trisomía para el brazo largo, produce retardo mental y características físico clínicas constantes. Se presenta a una niña de 2 años y seis meses de edad, derivada al consultorio de genética por talla baja, hipoacusia, ausencia del lenguaje. Primera hija, de padres no consanguíneos, padre de 31 años de edad y madre de 29 años con prenatal controlado. Al examen físico presenta una circunferencia cefálica de 46 cm.(­2 DS), talla de 85 cm., peso de 10 Kg., con puente nasal alto, orejas prominentes de implantación baja, dedos de manos y pies cortos, con hipoplasia ungueal. El estudio cromosómico en linfocitos de sangre periférica estimulados con fitohemaglutinina mostró una trisomía parcial del cromosoma 9. Cariotipo 47,XX,+ (9) ( p11, 1; p24,3). Los hallazgos fenotípicos observados en la niña, son comparados con las de otros pacientes con otras alteraciones citogenéticas del mismo cromosoma, corroborándose la existencia de una región critica para el fenotipo descrito para el síndrome 9p.

The cytogenetic evidence of the partial trisomy of chromosome 9, either complete or affecting part of the short arm with or without trisomy in the long arm, produces mental retardation and constant clinical and physical characteristics. We present a 2­year and six months old girl, derived to the genetics consulting service because of low weight, hypoacusia and absence of language. She was the first daughter of non­consanguineous 31 year­old father and 29 year­old mother with prenatal control. To the physical exam she presented a cephalic circumference of 46 cm (­2 DS), 85 cm height, 10 kg weight, with high nasal bridge, prominent ears of low installation, short fingers of hands and feet with ungueal hypoplasia. The chromosome study of peripheral blood lymphocytes stimulated with phytohemagglutinin showed a partial trisomy of chromosome 9. Kariotype 47,XX,+ (9) (p11, 1; p24,3). The phenotypic findings observed in the girl are compared to those of other patients with different cytogenetic alterations of the same chromosome, being corroborated the existence of a critical region for the phenotype described for 9p syndrome.

A Case of Distal 10q Partial Trisomy Syndrome / 대한소아신경학회지

Since Yunis and Sanchez described in 1974, distal 10q partial trisomy has been recognised as a chromosomal anomaly, which has typical features, psychomotor delays, distinctive dysmorphic appearance and growth retardation. Also, it is associated with cardiac, renal and ocular anomalies. Most of them result from an unbalanced tanslocation or a deletion but, pure duplications are very rare. We report a 19-month-old boy with typical clinical features of distal 10q partial trisomy with a pure duplicatin of 10q.

Partial Trisomy 10q from Maternal Balanced Insertion (15;10)(q22;q22q24) / 대한산부인과학회잡지

A balanced insertion of a parent may produce normal or carrier offsprings, spontaneous abortions, and chromosomally unbalanced offsprings. This is a rare report of duplication of chromosome 10q22->q24 which has arisen through the segregation of a balanced direct insertion. The partial trisomy 10q is a specific syndrome of mental retardation and malformation characterized by psychomotor delay, growth restriction, distinctive dysmorphic appearances, and, in some cases, cardiac, renal, and ocular abnormalities. We have experienced a case of partial trisomy 10q from maternal balanced insertion, which was prenatally showed severe fetal growth restriction and oligohydramnios, and present it with a brief review of literatures.

A Case of Partial Trisomy 9 by Balanced Maternal Translocation

Trisomy 9p syndrome was first described by Rethore et al in 1970 and about 100 cases have been reported since. The phenotypic spectrum of this syndrome is characterized by craniofacial malformation, facial deformity, skeletal and dermatoglyphic anomalies with variable degrees of mental retardation. We experienced a case of partial trisomy 9 syndrome in a 15-month-old female who had multiple congenital anomalies of frontal bossing, oblique antimongoloid palpebral fissures, enophthalmos, hypertelorism, globular prominent nose, down-turned mouth, prominent low-set ears, simian creases of both hands, clinodactyly and single crease of 5th finger, congenital dislocation of both knees and mental retardation. In cytogenetic studies using G banding technique and fluorescent in situ hybridization(FISH), she presented with an extra derivative chromosome No. 9. The karyotype of the patient was confirmed as 47,XX,+der (9),t (6:9) (q27;q21.2) mat. We report the case with the review of the associated literatures.

Recurrent Partial Trisomy 1q in Maternal Balanced Translocation t(1;11)(q32;q23) / 대한산부인과학회잡지

Abnormal offsprings from balanced translocation carriers usually inherit only one of the translocated products and are therefore partially trisomic for one chromosome and partially monosomic for another. Partial trisomy 1q usually demonstrates fetal growth restriction and anomalies of head, face, urogenital tract, heart, finger and toes with a wide range of characteristics and severities. It has been reported in a few individuals in the world and this is the first report of partial trisomy 1q in Korea. We present the case of recurrent partial trisomy 1q in maternal balanced translocation which was prenatally diagnosed by amniocentesis with fluorescence in situ hybridization(FISH) based on abnormal ultrasonographic findings and poor obstetric history.

A Cse of Partial Trisomy 10q Syndrome / 대한주산의학회잡지

Partial trisomy 10q syndrome is a rare chromosome anomaly characterized by severe mental and growth retardation, craniofacial dysmorphia with prominent forehead, fine arched eyebrows, deep set small eyes and micrognathia, In addition, other physical manifestations have been reported as skeletal anomaly, congenital heart disease, inguinal hernia, and so on. We report a case of partial trisomy 10q syndrorne with certain stigmata which confirmed by chromosome analysis.

A Case of 3p Partial Trisomy

3p partial trisomy is a rare chromosomal anomaly. We experienced a case of 3p partial trisomy in a male neonate. It was diagnosed by clinical and chromosoaml study. He had multiple anomalies such as brachycephaly, wide open fontanelle, square face, hypertelorism, mongoloid palpebral fissure, micrognathia, low set malformed ear, bilateral cleft lip and palate, double outlet right ventricle, atrial septal defect, ventricular septal defect, left ventricular hypoplasia, renal microcysts and micropenis. He was manifested intrauterine growth retardation. Peripheral blood chromosome studies showed an additional chromosomal material at the distal part of the short arm of chromosome 7. Analysis of chromosomes of family members showed that the father had normal karyotype, but the mother had reciprocal balanced translocation,46, XX, t(3;7)(p25;p22). The karyotype formula of the propositus was thus,46,XY,der(7),t(3;7)(p25;p22)mat, that is unbalanced for a duplication 3p25-->3pter, resulting from segregation of a balanced maternal translocation. Two years after patient's birth, his sister was born at 40 weeks of gestation without congenital anomalies. In the case of his sister, amniocentesis and chromosome studies had been done at 16 weeks of gestation. The result of the chromosome analysis was 46,XX,t(3;7)(p25;p22), as in her mother. We report a neonate with multiple congenital anomalies due to partial trisomy for the short arm of chromosome 3, his mother and a female sibling with t(3;7)(p25-->p22).

An unusual combination of trisomy 21 and partial trisomy 5q

The authors describe a male newborn with multiple congenital anomalies; craniofacial dysmorphism, bilateral cleft palate and lip, ambiguous external genitalia with absence of phallus, ventricular septal defect, agenesis of olfactory bulbs, and presence of small round cells simulating migration defect in the cerebellar white matter. Cytogenetic study demonstrated a chromosomal constitution of 47,XY, +21, +5q. Its pathological significance compared with Down's syndrome and hitherto reported partial trisomy 5q is discussed.