Abstract
We report on a 15-month-old girl with a deletion of the distal short arm of chromosome 1p36.3, partial trisomy of the short arm of chromosome 19p13.3, growth and developmental delay, and multiple anomalies including microcephaly, bifrontal prominence, obtuse frontonasal angle, short columella, hypertelorism, sacral dimples, and a bicuspid pulmonary valve. Based on our FISHmapping studies, we estimate the size of the trisomic region of 19p.13.3 to be ∼3.17 Mb, and the region of monosomy for 1p36.3 as 1.3 Mb. This is the first report of a patient with partial trisomy 19p13.3 and partial monosomy p36.3.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 1782-1785 |
| Number of pages | 4 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 149 |
| Issue number | 8 |
| DOIs | |
| State | Published - Aug 1 2009 |
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All Science Journal Classification (ASJC) codes
- Genetics
- Genetics(clinical)
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Partial trisomy 19p13.3 and partial monosomy 1p36.3 : Clinical report and a literature review. / Puvabanditsin, Surasak; Garrow, Eugene; Brandsma, Erik; Savla, Jayshree; Kunjumon, Bgee; Gadi, Inder.
In: American Journal of Medical Genetics, Part A, Vol. 149, No. 8, 01.08.2009, p. 1782-1785.Research output: Contribution to journal › Article
TY - JOUR
T1 - Partial trisomy 19p13.3 and partial monosomy 1p36.3
T2 - Clinical report and a literature review
AU - Puvabanditsin, Surasak
AU - Garrow, Eugene
AU - Brandsma, Erik
AU - Savla, Jayshree
AU - Kunjumon, Bgee
AU - Gadi, Inder
PY - 2009/8/1
Y1 - 2009/8/1
N2 - We report on a 15-month-old girl with a deletion of the distal short arm of chromosome 1p36.3, partial trisomy of the short arm of chromosome 19p13.3, growth and developmental delay, and multiple anomalies including microcephaly, bifrontal prominence, obtuse frontonasal angle, short columella, hypertelorism, sacral dimples, and a bicuspid pulmonary valve. Based on our FISHmapping studies, we estimate the size of the trisomic region of 19p.13.3 to be ∼3.17 Mb, and the region of monosomy for 1p36.3 as 1.3 Mb. This is the first report of a patient with partial trisomy 19p13.3 and partial monosomy p36.3.
AB - We report on a 15-month-old girl with a deletion of the distal short arm of chromosome 1p36.3, partial trisomy of the short arm of chromosome 19p13.3, growth and developmental delay, and multiple anomalies including microcephaly, bifrontal prominence, obtuse frontonasal angle, short columella, hypertelorism, sacral dimples, and a bicuspid pulmonary valve. Based on our FISHmapping studies, we estimate the size of the trisomic region of 19p.13.3 to be ∼3.17 Mb, and the region of monosomy for 1p36.3 as 1.3 Mb. This is the first report of a patient with partial trisomy 19p13.3 and partial monosomy p36.3.
UR - http://www.scopus.com/inward/record.url?scp=68049110403&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=68049110403&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.32972
DO - 10.1002/ajmg.a.32972
M3 - Article
C2 - 19610110
AN - SCOPUS:68049110403
VL - 149
SP - 1782
EP - 1785
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 8
ER -