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Interstitial deletion of long arm of chromosome no. 5 with growth hormone deficiency-an emerging syndrome?
- Source :
- Clinical Genetics. 51:48-51
- Publication Year :
- 2008
- Publisher :
- Wiley, 2008.
-
Abstract
- 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.
- Subjects :
- Adult
Heart Defects, Congenital
Male
medicine.medical_specialty
Foot Deformities, Congenital
Depressed nasal bridge
Short neck
Nose
Biology
Short stature
Growth hormone deficiency
Growth factor receptor
Pregnancy
Internal medicine
Genetics
medicine
Humans
Syndactyly
Child
Growth Disorders
Genetics (clinical)
Infant, Newborn
Ear
Syndrome
medicine.disease
Body Height
Failure to Thrive
Cleft Palate
Palpebral fissure
Endocrinology
Growth Hormone
Failure to thrive
Chromosomes, Human, Pair 5
Female
Chromosome Deletion
medicine.symptom
Subjects
Details
- ISSN :
- 13990004 and 00099163
- Volume :
- 51
- Database :
- OpenAIRE
- Journal :
- Clinical Genetics
- Accession number :
- edsair.doi.dedup.....d3defb9b2a419a47065048b10c3400e6