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Interstitial deletion of the long arm of chromosome 7 46,XX,del(7)(pter→q2200::q3200→qter)

✍ Scribed by P. Franceschini; M. Cirillo Silengo; G. F. Davi; M. A. Santoro; G. Prandi; C. Fabris


Publisher
Springer
Year
1978
Tongue
English
Weight
196 KB
Volume
44
Category
Article
ISSN
0340-6717

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✦ Synopsis


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 those in the two cases already described.


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