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Chromosome 7 short arm deletion, 7p21→pter

✍ Scribed by M. Schömig-Spinger; M. Schmid; W. Brosi; T. Grimm


Publisher
Springer
Year
1986
Tongue
English
Weight
270 KB
Volume
74
Category
Article
ISSN
0340-6717

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Chromosome 7 short-arm interstitial dele
✍ Sri J. Moedjono; Steve J. Funderburk; Robert S. Sparkes 📂 Article 📅 1978 🏛 Springer 🌐 English ⚖ 273 KB

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

Interstitial deletion of the long arm of
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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

Short arm deletion of chromosome 12
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Two boys (W.M. and C.P.) are described, in each of whom a short-arm deleted C chromosome was apparently present. The clinical findings on W.M. are stenosis of the sagittal sutura associated with atrophy of the nervus opticus and mental retardation, and on C.P. osteogenesis imperfecta. An analysis of