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PubMed · 7542835

Familial inverted duplication 7p.

G B Schaefer·K Novak·D Steele·B Buehler·S Smith·D Zaleski·D Pickering·M Nelson·W Sanger
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Abstract

A 10-month-old female with developmental delay and failure to thrive was referred for genetic evaluation as part of an adoption assessment. Physical exam showed a mildly beaked nose and clinodactyly, but otherwise nothing remarkable. Chromosome analysis showed an inverted duplication of the p12.2-->p13 portion of chromosome 7[(46,XX, dup(7)(p13p12.2)]. The proposita's older brother, mother, and grandmother were cognitively delayed and had the same chromosome 7 duplication. A review of the literature showed no other cases involving this exact duplication.

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Chromosome InversionChromosomes, Human, Pair 7Developmental DisabilitiesFemaleHumansInfantIntellectual DisabilityKaryotypingPedigreeCase ReportsJournal ArticleReview

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BibTeXRIS

G B Schaefer, K Novak, D Steele, B Buehler, S Smith, D Zaleski, D Pickering, M Nelson, W Sanger. 1995-03-27. Familial inverted duplication 7p.. https://doi.org/10.1002/ajmg.1320560214

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