Maternal isochromosome 7q and paternal isochromosome 7p in a boy with growth retardation.
A 12-year 9-month-old boy with postnatal growth retardation, normal psychomotor development, and minor anomalies that included a triangular-shaped face, small nose, and narrow and high-arched palate is reported. The constitutional karyotype was 46,XY,i(7)(p10),i(7)(q10). Molecular investigations revealed the presence of a maternal isodisomy 7q and a paternal isodisomy 7p. The clinical and molecular findings are notably congruent with a recently reported case and support the hypothesis of one or more maternally imprinted genes located on the long arm of chromosomes 7 that regulate, in particular, postnatal growth.
Kotzot
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Institute for Human Genetics, University of Leipzig, Leipzig, Germany.
Holland
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Keller
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Froster
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UG
D000293:Adolescent; D002871:Chromosome Banding; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005192:Family Health; D005260:Female; D006130:Growth Disorders / Q000235:genetics* / Q000473:pathology; D006801:Humans; D018404:Isochromosomes / Q000235:genetics*; D007621:Karyotyping; D008297:Male