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Interstitial deletion of the long arm of chromosome 7

✍ Scribed by Lisbeth Serup

Publisher
Springer
Year
1980
Tongue
English
Weight
580 KB
Volume
54
Category
Article
ISSN
0340-6717

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

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A 13-year-old girl presented with microcephaly, short and broad neck, low posterior hairline, congenital heart disease, limitation of joint movement, and mild mental retardation. Chromosomal analysis showed interstitial deletion of band p14 of the short arm of chromosome 7. The patient's physical an