Prader-Willi-like syndrome in a patient with an Xq23q25 duplication

Kristin G. Monaghan, Daniel L. Van Dyke, Gerald L. Feldman

Research output: Contribution to journalArticle

23 Scopus citations

Abstract

We report on a 24-year old woman with an Xq duplication and findings suggestive of Prader-Willi syndrome (PWS). Her birth weight was at the 3rd centile and her birth length was less than the 3rd centile. She was hypotonic and had a weak cry as an infant. There were no feeding difficulties, although her mother reports that as an infant, she was 'small for her age.' Excessive weight gain began between 3 and 4 years. The patient's development was delayed and she received special education. She has a history of hiding food. She has a sleep disturbance disorder and inappropriate social behavior. At the age of 24 years her height was below the 5th centile and weight >>95th centile. She has physical findings typical of PWS, skin picking, and speech articulation defects. Cytogenetic analysis showed a 46,X,dup(X)(q23q25) karyotype. Fluorescent in situ hybridization (FISH) studies using a chromosome X painting probe demonstrated that the rearrangement was intrachromosomal. The X-chromosome fold scoring technique was used to determine the X inactivation pattern and indicated that some cells expressed the abnormal X chromosome. Results of FISH studies using the SNRPN probe localized to 15q11q13 and DNA studies using the PW71B and SNRPN probes were normal. The duplicated X chromosome, random X inactivation pattern, and the negative molecular studies for PWS indicate that the abnormal X chromosome is the basis of this patient's phenotype. This patient emphasizes the importance of obtaining a karyotype even when a syndrome diagnosable by molecular methods is strongly suspected.

Original languageEnglish (US)
Pages (from-to)227-231
Number of pages5
JournalAmerican journal of medical genetics
Volume80
Issue number3
DOIs
StatePublished - Dec 3 1998

Keywords

  • FISH
  • Prader-Willi syndrome
  • Xq duplication

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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