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 | |
| State | Published - Jul 15 2006 |
| Externally published | Yes |
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Keywords
- Array CGH
- Chromosome 3 deletions
- Deletion 3p25 syndrome
- Genotype-phenotype correlation
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect. / Takagishi, Jennifer; Rauen, Katherine A; Drumheller, Timothy; Kousseff, Boris; Sutcliffe, Maxine.
In: American Journal of Medical Genetics, Part A, Vol. 140, No. 14, 15.07.2006, p. 1587-1593.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect
AU - Takagishi, Jennifer
AU - Rauen, Katherine A
AU - Drumheller, Timothy
AU - Kousseff, Boris
AU - Sutcliffe, Maxine
PY - 2006/7/15
Y1 - 2006/7/15
N2 - 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.
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.
KW - Array CGH
KW - Chromosome 3 deletions
KW - Deletion 3p25 syndrome
KW - Genotype-phenotype correlation
UR - http://www.scopus.com/inward/record.url?scp=33745622176&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33745622176&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.31325
DO - 10.1002/ajmg.a.31325
M3 - Article
C2 - 16770804
AN - SCOPUS:33745622176
VL - 140
SP - 1587
EP - 1593
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
SN - 1552-4825
IS - 14
ER -