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Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences

✍ Scribed by Andreas Tzschach; Ines Krause-Plonka; Corinna Menzel; Vera Kalscheuer; Holger Toennies; Harry Scherthan; Andreas Knoblauch; Michael Radke; Hans-Hilger Ropers; Maria Hoeltzenbein


Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
181 KB
Volume
140A
Category
Article
ISSN
1552-4825

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Molecular cytogenetic analysis of a de n
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## Abstract Interstitial deletions of 10q are rare, and only one patient with a deletion confined to chromosome band 10q22 has been reported so far. We report on a 2 6/12‐year‐old girl with a constitutional interstitial deletion of one homologue of 10q [karyotype: 46,XX,del(10)(q22.2q22.3)de novo].

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Interstitial deletions are relatively rare chromosomal anomalies that usually arise de novo. The data describing the phenotype associated with interstitial deletions of 5q are very limited. We describe the first case of multiple fetal anomalies, diagnosed on prenatal sonographic examination, associa

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## Abstract An 11‐year‐old girl presented with the phenotype of microcephaly, moderate mental retardation, motor retardation, short stature, strabismus, brachydactyly, and facial dysmorphism. She had undergone surgery for inguinal hernias. Detailed examinations of the heart and other internal organ