Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect

Jennifer Takagishi; Katherine A Rauen; Timothy Drumheller; Boris Kousseff; Maxine Sutcliffe

doi:10.1002/ajmg.a.31325

Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect

Jennifer Takagishi, Katherine A Rauen, Timothy Drumheller, Boris Kousseff, Maxine Sutcliffe

Research output: Contribution to journal › Article

20 Scopus citations

Abstract

3p25 deletion syndrome is characterized by mental retardation, growth retardation, hypotonia, microcephaly, ptosis, and micrognathia. Of the 42 persons with this deletion syndrome cited in the literature, only 2 patients, a mother-daughter pair, have previously been reported without apparent clinical consequence. We present a second mother-daughter dyad with a terminal 3p25.3-3pter deletion, who present with only mild clinical effects. In addition to cytogenetic analysis, array CGH was performed to determine the breakpoints at the molecular level. Our data show that the 3p25 deletion syndrome may, therefore, reflect a much broader phenotypic spectrum than previously recognized.

Original language	English (US)
Pages (from-to)	1587-1593
Number of pages	7
Journal	American Journal of Medical Genetics, Part A
Volume	140
Issue number	14
DOIs	https://doi.org/10.1002/ajmg.a.31325
State	Published - Jul 15 2006
Externally published	Yes

Keywords

Array CGH
Chromosome 3 deletions
Deletion 3p25 syndrome
Genotype-phenotype correlation

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.31325

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Takagishi, J., Rauen, K. A., Drumheller, T., Kousseff, B., & Sutcliffe, M. (2006). Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect. American Journal of Medical Genetics, Part A, 140(14), 1587-1593. https://doi.org/10.1002/ajmg.a.31325

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abstract = "3p25 deletion syndrome is characterized by mental retardation, growth retardation, hypotonia, microcephaly, ptosis, and micrognathia. Of the 42 persons with this deletion syndrome cited in the literature, only 2 patients, a mother-daughter pair, have previously been reported without apparent clinical consequence. We present a second mother-daughter dyad with a terminal 3p25.3-3pter deletion, who present with only mild clinical effects. In addition to cytogenetic analysis, array CGH was performed to determine the breakpoints at the molecular level. Our data show that the 3p25 deletion syndrome may, therefore, reflect a much broader phenotypic spectrum than previously recognized.",

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AU - Kousseff, Boris

AU - Sutcliffe, Maxine

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AB - 3p25 deletion syndrome is characterized by mental retardation, growth retardation, hypotonia, microcephaly, ptosis, and micrognathia. Of the 42 persons with this deletion syndrome cited in the literature, only 2 patients, a mother-daughter pair, have previously been reported without apparent clinical consequence. We present a second mother-daughter dyad with a terminal 3p25.3-3pter deletion, who present with only mild clinical effects. In addition to cytogenetic analysis, array CGH was performed to determine the breakpoints at the molecular level. Our data show that the 3p25 deletion syndrome may, therefore, reflect a much broader phenotypic spectrum than previously recognized.

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