Chung J L, Choi J R, Park M S, Choi S H
Department of Clinical Pathology, Yonsei University College of Medicine, C.P.O. Box 8044, Seoul 120-752, Korea.
Yonsei Med J. 2001 Oct;42(5):558-62. doi: 10.3349/ymj.2001.42.5.558.
"13q-"syndrome is known to have widely variable manifestations, including retinoblastoma, mental & growth retardation, malformation of brain & heart, anal atresia, and anomalies of the face and limbs. Here we report a case of del(13)(q22) with multiple major congenital anomalies for the first time in Korea. The patient was born at 36(+4) weeks of pregnancy by caesarian section. Birth weight was 1490g. On examination the following features were noted: - imperforate anus, ambiguous genitalia (bifid scrotum, penoscrotal transposition, hypospadia), syndactyly of toes, absence of thumbs, abnormal facies (dolichocephaly, telecanthus, large low set ears, saddle nose, high arched palate, micrognathia). Neurocranial ultrasonography showed atrophy of the corpus callosum and multiple calcifications. He died at 14 days. Post-mortem autopsy findings showed cholestasis and fatty metamorphosis of liver, abnormal lobulation (Rt:2, Lt:1) and lymphangiectasis of the lung, VSD, ASD, PDA of heart, and acute tubular necrosis of kidney. Cytogenetic studies was confirmed to 46,XY,del(13) (q22) by Giemsa banded chromosomes from peripheral blood lymphocytes.
已知“13q-”综合征有广泛多样的表现，包括视网膜母细胞瘤、智力和生长发育迟缓、脑和心脏畸形、肛门闭锁以及面部和肢体异常。在此，我们首次在韩国报告一例13号染色体长臂2区2带缺失（del(13)(q22)）且伴有多种主要先天性异常的病例。该患者在妊娠36（+4）周时通过剖宫产出生。出生体重为1490克。检查发现以下特征：肛门闭锁、两性生殖器畸形（阴囊分裂、阴茎阴囊转位、尿道下裂）、并趾、拇指缺如、面容异常（长头畸形、内眦距增宽、低位大耳、鞍鼻、高拱腭、小颌畸形）。神经颅部超声检查显示胼胝体萎缩和多处钙化。他在14天时死亡。尸检结果显示肝内胆汁淤积和脂肪变性、肺叶异常分叶（右叶：2个，左叶：1个）及淋巴管扩张、心脏室间隔缺损、房间隔缺损、动脉导管未闭，以及肾急性肾小管坏死。通过外周血淋巴细胞吉姆萨染色染色体分析，细胞遗传学研究证实为46,XY,del(13)(q22)。
