A GIRL WITH AN INTERSTITIAL DELETION OF THE SHORT ARM OF CHROMOSOME-3 STUDIED WITH A HIGH-RESOLUTION BANDING TECHNIQUE
A GIRL WITH AN INTERSTITIAL DELETION OF THE SHORT ARM OF CHROMOSOME-3 STUDIED WITH A HIGH-RESOLUTION BANDING TECHNIQUE
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DOI：
10.1007/bf00293073
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发表时间：
1981-01-01
期刊：
影响因子：
5.3
通讯作者：
LUNDMARK, KM
中科院分区：
文献类型：
--
作者：
SICHONG, Z;BUI, TH;LUNDMARK, KM
A girl with delayed growth in body height and weight, retarded psychomotor development, facial dysmorphism, higharched palate, extension defects of elbows and a probable hearing impairment is presented. A chromosome investigation by both conventional and high-resolution banding techniques revealed an apparently pure interstitial deletion of the proximal segment of the short arm of chromosome 3 (46,XX,del(3) (p11p14.2) de novo). The paternal karyotype is 47,XYY. The clinical features of the patient are compared with those of 2 previously reported cases in the literature with an interstitial 3p deletion.
