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De novo interstitial deletion of the long arm of chromosome 3:46, XX, del(3) (q25.1q26.1)

✍ Scribed by Nathaniel H. Robin; Mark Magnusson; Donna McDonald-McGinn; Elaine H. Zackai; Nancy B. Spinner

Book ID: 115091451
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 814 KB
Volume: 44
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1993.tb03911.x

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We report on a terminal deletion of the long arm of chromosome 3 [46,XX,de1(3)(q27+qter)l in a female newborn infant who died 45 hours after delivery and had multiple congenital abnormalities including bilateral anophthalmia, congenital heart disease, and abnormal genitalia. The findings are compare

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Interstitial deletion of the long arm of chromosome 1 [del(1)(q32q42)]

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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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