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Tandem Y/6 translocation with partial deletion 6 (p23→pter)

✍ Scribed by Patrick C. Kelly; W. Woods Blake; John R. Davis


Book ID
115089936
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
288 KB
Volume
36
Category
Article
ISSN
0009-9163

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?Essentially pure? partial trisomy (6)(p
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We report on two brothers with low birth weight, growth retardation, microcephaly, minor facial anomalies, mental retardation, and trisomy (6)(p23→pter) due to a maternal t(6;17)(p23;p13.3). As demonstrated by fluorescent in situ hybridisation (FISH) with the Miller-Dieker cosmid probe (D17S379) and

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A de novo interstitial tandem duplication of 6p12p21.3 was observed in a 7-month-old boy with growth retardation, psychomotor delay and craniofacial, brain, limb, and genital anomalies. Fluorescent in situ hybridization using a chromosome 6 paint probe demonstrated that the extra material belonged t