Molecular studies of segmental aneusomy: FISHing for the atypical cry in del(5)(p15.3)

J. C. Hodge, A. Lawson-Yuen, J. M. Stoler, A. H. Ligon

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

We report a newborn male with multiple congenital anomalies including growth retardation, hypotonia, dysmorphic facies, widely-spaced nipples, micropenis, cryptorchidism, optic nerve hypoplasia, heart disease, and a striking, high-pitched cry. Chromosome analysis revealed de novo partial trisomy 11q due to a der(5)t(5;11)(p15.3;q22). Fluorescence in situ hybridization (FISH) showed loss of the 5p telomere signal on the der(5) chromosome, indicating the infant has partial monosomy 5p in addition to partial trisomy 11q. Among cases involving trisomy 11q, an unusual cry has only been documented in the presence of a der(5)t(5p;11q). This apparent dependence of the abnormal cry on monosomy 5p suggested the same genetic mechanism that occurs in Cri du chat syndrome (CDCS) may be responsible for the atypical cry in der(5)t(5p;11q) individuals. Neither a commercial CDCS probe (LSI D5S23, D5S721) nor a series of BAC clones encompassing distal regions implicated in the CDCS-associated cat-cry were deleted in our patient. These results suggest a second cry-modifying locus maps telomeric to BAC RP11-94J21 in band 5p15.33. This locus may not only cause the abnormal cry in individuals with a der(5)t(5p;11q) but could also contribute to the phenotypic variability and discordant mapping studies observed for CDCS.

Original languageEnglish (US)
Pages (from-to)15-20
Number of pages6
JournalCytogenetic and Genome Research
Volume119
Issue number1-2
DOIs
StatePublished - Dec 2007
Externally publishedYes

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Cri-du-Chat Syndrome
Chromosome Deletion
Chromosomes, Human, Pair 5
Muscle Hypotonia
Cryptorchidism
Nipples
Telomere
Optic Nerve
Fluorescence In Situ Hybridization
Heart Diseases
Cats
Clone Cells
Chromosomes
Newborn Infant
Growth

ASJC Scopus subject areas

  • Cell Biology
  • Genetics

Cite this

Molecular studies of segmental aneusomy : FISHing for the atypical cry in del(5)(p15.3). / Hodge, J. C.; Lawson-Yuen, A.; Stoler, J. M.; Ligon, A. H.

In: Cytogenetic and Genome Research, Vol. 119, No. 1-2, 12.2007, p. 15-20.

Research output: Contribution to journalArticle

Hodge, J. C. ; Lawson-Yuen, A. ; Stoler, J. M. ; Ligon, A. H. / Molecular studies of segmental aneusomy : FISHing for the atypical cry in del(5)(p15.3). In: Cytogenetic and Genome Research. 2007 ; Vol. 119, No. 1-2. pp. 15-20.
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