Interstitial 7q deletion [46,XY,del (7) (pter → cen::q112 → qter)] in a retarded quadriplegic boy with normal beta glucuronidase

M. Frydman, J. Steinberger, F. Shabtai, R. Steinherz

Research output: Contribution to journalArticlepeer-review

Abstract

A 14-year-old severely retarded male with deletion of chromosomal band 7 cen → q112 is described. Clinical features include short stature, microcephaly, unusual facies with narrow forehead, short nose, malar hypoplasia, protruding alveolar ridges and incisors, receding chin, relatively long philtrum, and large ears. In addition, he had bilateral inguinal herniae cryptorchidism with hypogonadism, pulmonic stenosis, and spastic quadriplegia. Normal activity of beta-glucuronidase was found in the patient's leukocytes. This finding suggests that the gene is not in the deleted region, narrowing the smallest region of overlap to 7q112 → q22.

Original languageEnglish
Pages (from-to)245-249
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume25
Issue number2
DOIs
StatePublished - 1986
Externally publishedYes

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