We describe a malformed newborn girl with an interstitial deletion of the long arm of chromosome 2 (karyotype: 46, XX, del (2) (q31q33)). This is the first report of this particular chromosome abnormality that includes autopsy findings. Comparison with previous cases in the literature suggests that
Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn-karyotype: 46,XX,del(2)(q21;q24)
β Scribed by J. P. Fryns; B. Bosstraeten; H. Malbrain; H. Berghe
- Publisher
- Springer
- Year
- 1977
- Tongue
- English
- Weight
- 918 KB
- Volume
- 39
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
This report describes a polymalformed female newborn presenting an interstitial deletion of the long arms of chromosome 2. Karyotype: 46,XX,del(2)(q21 q24).
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A polymalformed newborn with partial monosomy for the long arm of chromosome 16 is presented. Karyotype 46,XX,del(16)(q21). Numerical abnormalities of chromosome 16 have never been reported in liveborn infants, and only one case of partial trisomy for the long arm of chromosome 16 in a polymalforme
A newborn girl with multiple anomalies had an interstitial deletion of the long arm of chromosome 7 (46, XX,der(7)mat). The patient's mother and maternal grandmother were carriers of a balanced translocation, 46,XX, inv ins(5;7)(q14;q3200q2200). Both cytogenetic and clinical findings were similar to