| A Case of 3p Partial Trisomy |
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Jeong Eun Park1, Il Soo Kim1, Moo Young Song1, Eun Ryoung Kim1, Shin Young Moon2, Sun Kyung Oh2 |
1Department of Pediatrics, Sung-Ae General Hospital, Seoul, Korea
2Institute of Reproductive Medicine and Population, Seoul National University, Seoul, Korea |
| 3p Partial Trisomy 1례 |
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박정은1, 김일수1, 송무영1, 김은령1, 문신용2, 오선경2 |
1성애병원 소아과
2서울대학교 인구의학연구소 유전학교실 |
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| Abstract |
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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). |
| Key Words:
3p partial trisomy, Balanced translocation, Multiple congenital anomalies |
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