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Interstitial deletion of the long arm of chromosome no. 7 (7q-) in an infant with multiple anomalies

✍ Scribed by Grant Higginson; David D. Weaver; R. Ellen Magenis; Gerald H. Prescott; Claudia Haag; Douglas J. Hepburn


Book ID
119838380
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
411 KB
Volume
10
Category
Article
ISSN
0009-9163

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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