10q远端三体/14q部分单体：一种不寻常的临床表现。
Distal trisomy 10q/partial monosomy 14q: an unusual clinical picture.
作者信息
Bregant L, Gersak K, Veble A
机构信息
Department Obstetrics and Gynecology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
出版信息
Genet Couns. 2005;16(1):59-63.
A case of twin boy with partial trisomy for the distal part of the long arm of chromosome 10 (10q24-->qter) and a concomitant monosomy 14(q32-->qter) is reported. The chromosomal abnormalities resulted from a paternal balanced translocation involving chromosomes 10 and 14. An additional clinical feature was observed, viz. hypoplastic lungs. The proband's phenotype was compared to previously reported patients with partial trisomy 10q or 14q deletion.
报道了一例双胎男孩病例，其10号染色体长臂远端（10q24→qter）存在部分三体，同时伴有14号染色体（q32→qter）单体。染色体异常是由涉及10号和14号染色体的父源性平衡易位所致。还观察到一个额外的临床特征，即肺发育不全。将先证者的表型与先前报道的部分10q三体或14q缺失患者进行了比较。
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