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.

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.

Unbalanced translocation der(8)t(8:13)(p23.3;q32.1)dn identified by array CGH and subtelomeric FISH in a patient with mental retardation

Molecular cytogenetics allows the identification of unknown chromosome rearrangements, which is clinically useful in patients with mental retardation and/or development delay. We report on a 31-year- old woman with severe mental retardation, behavior development delay, and verbal performance delay. Conventional cytogenetic analysis showed a 46,XX,add(8)(p23.3) karyotype. To determine the origin of this unbalanced translocation, we performed array CGH and subtelomeric FISH. The results showed that the distal region of chromosome 8p was added to the terminal of chromosome 13q. This was confirmed the final result of 46,XX,der(8)t(8:13)(p23.3;q32.1)dn.

An Unbalanced Translocation of Chromosome 16 Associated with Multiple Congenital Anomalies

We present a case of de novo reciprocal unbalanced translocation of chromosome 16, [46, XX, 8p+, der(8)t(8;16)(p23;q13)enh(16)], associated with clinical features, including anal atresia, vertebral anomaly, urogenital anomaly, single umbilical artery, ventricular septal defect and bilateral sensorineural hearing losses.

A Case of Premature Ovarian Failure in Patient with Unbalanced translocation on the X chromosome / 대한산부인과학회지

Premature ovarian failure (POF) is defined as the complete cessation of menses less than 40 years of age. The criteria are more than four months of amenorrhea, with serum follicle stimulating hormone value of >40 mIU/mL and the frequency of POF is about 1% of all women. Although the etiologies of POF remain unknown, suggested factors are genetic, autoimmune, chemotherapy and environmental toxicants. The cytogenetic abnormalities predominantly concern the X chromosome, including Turner syndrome, Fragile X syndrome and deletion or translocation of X chromosome. We report a case of premature ovarian failure with the following karyotype: 46,X,der(X), t(X;11)(q28;p13).

Unbalanced Translocations of Chromosome 2 and Chromosome 20 in a Two-Generation Family

An unbalanced translocation is frequently the result of inheritance of an unbalanced haploid set from a parent with a balanced translocation. Families in which one parent is a balanced translocation carrier fall into the following classes : Those in which none of the possible abnormal offsprings is viable; Those in which one type of offspring, usually the one with the smaller deletion, is born alive; Those in which two types of abnormal offspring are viable. We report a neonate whose karyotype was 46,XX,der(2)t(2;7)(q21;p21.2),der(20)t(2;20)(q21;p13). She was small for her gestational age and had multiple anomalies such as exophthalmos, corneal opacity, short neck, tongue tie, clinodactyly, atrial septal defect, patent ductus arteriosus and ventriculomegaly. Moreover, her mother's karyotype was 46,XX,der(2)t(2;7)(q21;p21.2),del(16)(q22.1),der(20)t(2;20)(q21;p13) but her father had normal karyotype. The same derivative chrosomes were found between mother and her infant, except for del(16)(q22.1) in her mother and these same unbalanced translocations in a two-generation family are extremely rare.

A De Novo Unbalanced Translocation t (5;7) (q33;p22) Carrying Partial Trisomy 5q and Partial Monosomy 7p / 대한임상병리학회지

Partial trisomy of the long arm of chromosome 5 distal to 5q33 is rare. Only 16 cases have so far been reported. We report on a three-year-old boy with microcephaly, growth and developmental delay, mild mental retardation, and facial dysmorphism caused by partial 5q trisomy and partial 7p monosomy. The patient has an apparently unbalanced translocation resulting from a rearrangement between chromosomes 5 and 7 (46,XY,der (7)t (5;7) (q33;p22)de novo). Fluorescence in situ hybridization with chromosome 5 and 7 painting probes and a cri-du-chat critical region probe confirmed this chromosome rearrangement. Most cases of partial trisomy 5q33-q35 described to date are due to the unbalanced transmission of a familial translocation. To the best of our knowledge, there are no previous reports of de novo unbalanced translocations of these two chromosome abnormalities together with similar breakpoints.