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Interstitial deletion of long arm of chromosome no. 5 with growth hormone deficiency‐an emerging syndrome?
Author(s) -
Krishna Jyoti,
Myers Terry L,
Bourgeois Michael J.,
Tonk Vijay
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02414.x
Subject(s) - short stature , failure to thrive , growth hormone deficiency , palpebral fissure , endocrinology , endocrine system , growth retardation , medicine , biology , hormone , genetics , growth hormone , anatomy , pregnancy
5p‐is a well‐defined syndrome, but phenotypic correlations of 5q are poorly described in the literature. We present a case of a female child with interstitial deletion in the 5q13.1q15 region. Comparison of the clinical features of this patient with others reported in the literature suggests an emerging clinical syndrome defined by short stature, failure to thrive, mental retardation, slanting palpebral fissures, malformed ears, short neck and depressed nasal bridge. Based on our endocrine testing, we hypothesize that the short stature could be, in part, due to growth hormone deficiency. The recent assignment of growth hormone receptor gene to the short arm of chromosome 5 and the presence of several genes for growth factors and growth factor receptors on 5q raise interesting possibilities for the explanation of short stature in such cases.