Interstitial deletion 1p in a 30 year old woman.
نویسندگان
چکیده
High resolution chromosome analysis showed the karyotype 46,XX,del(1)(p22.1 p31.2) in a 30 year old woman with psychomotor retardation and various malformations. Determination of the enzyme phosphoglucomutase 1 (PGM1) showed that she was a heterozygote. Three other cases of interstitial deletion 1p have been reported previously, and one of these cases had several features in common with our case, suggesting a distinct syndrome.
منابع مشابه
Two cases of interstitial deletion 1p.
We report two cases of interstitial deletion of the short arm of chromosome 1. The first was a 10 year old boy whose karyotype was 46,XY,del(1) (p22.1p31.2); the second was a 6 month old boy with a chromosome complement of 46,XY,del(1) (p22.3p31.3). A number of the malformations observed were common to both cases. There has been one previously reported case with the same breakpoints as our case...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 24 4 شماره
صفحات -
تاریخ انتشار 1987