Proximal duplications of chromosome 15

clinical dilemmas

O. J. Hood, B. M. Rouse, Lillian Lockhart, J. B. Bodensteiner

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

The apparently rare cytogenetic abnormality of partial trisomy 15 was diagnosed by the authors in a patient presenting with developmental retardation, macrocephaly with ventricular enlargement and prominent subarachnoid spaces, hypotonia, low-set ears, hyperextensible wrists and hands, high arched palate, tapering fingers, right esotropia, and bilateral metatarsus adductus. Clinical findings in this case are similar to previously reported cases of proximal duplications of chromosome 15 and bear some similarity to the Prader-Willi syndrome. However, our patient did not have the severe hypotonia, early failure to thrive, or genital abnormalities seen in classical Prader-Willi syndrome. This case supports the theory that a variety of cytogenetic aberrations in proximal 15q can cause a 'Prader-Willi-like' syndrome. Increased clinical suspicion is needed when patients are seen with hypotonia, retarded development and mild dysmorphism if the variety of phenotypes are to be delineated.

Original languageEnglish (US)
Pages (from-to)234-240
Number of pages7
JournalClinical Genetics
Volume29
Issue number3
StatePublished - 1986

Fingerprint

Prader-Willi Syndrome
Chromosomes, Human, Pair 15
Muscle Hypotonia
Chromosome Aberrations
Megalencephaly
Esotropia
Failure to Thrive
Subarachnoid Space
Palate
Trisomy
Wrist
Fingers
Ear
Hand
Phenotype

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Hood, O. J., Rouse, B. M., Lockhart, L., & Bodensteiner, J. B. (1986). Proximal duplications of chromosome 15: clinical dilemmas. Clinical Genetics, 29(3), 234-240.

Proximal duplications of chromosome 15 : clinical dilemmas. / Hood, O. J.; Rouse, B. M.; Lockhart, Lillian; Bodensteiner, J. B.

In: Clinical Genetics, Vol. 29, No. 3, 1986, p. 234-240.

Research output: Contribution to journalArticle

Hood, OJ, Rouse, BM, Lockhart, L & Bodensteiner, JB 1986, 'Proximal duplications of chromosome 15: clinical dilemmas', Clinical Genetics, vol. 29, no. 3, pp. 234-240.
Hood OJ, Rouse BM, Lockhart L, Bodensteiner JB. Proximal duplications of chromosome 15: clinical dilemmas. Clinical Genetics. 1986;29(3):234-240.
Hood, O. J. ; Rouse, B. M. ; Lockhart, Lillian ; Bodensteiner, J. B. / Proximal duplications of chromosome 15 : clinical dilemmas. In: Clinical Genetics. 1986 ; Vol. 29, No. 3. pp. 234-240.
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