PMID- 16619204
OWN - NLM
STAT- MEDLINE
DCOM- 20060710
LR  - 20220408
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 140
IP  - 10
DP  - 2006 May 15
TI  - Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 
      deletion.
PG  - 1108-10
AB  - Interstitial deletions of 10q are rare, and only one patient with a deletion 
      confined to chromosome band 10q22 has been reported so far. We report on a 2 
      6/12-year-old girl with a constitutional interstitial deletion of one homologue 
      of 10q [karyotype: 46,XX,del(10)(q22.2q22.3)de novo]. Our patient had muscular 
      hypotonia, developmental delay, growth retardation, mild facial dysmorphism, and 
      hypoplastic labia minora. The precise location and extent (3.6 Mb) of the 
      deletion was determined by fluorescence in situ hybridization (FISH) using 16 YAC 
      and BAC clones. The clinical features in our patient are remarkably similar to 
      the previously reported patient with a 10q22.2 deletion.
FAU - Tzschach, Andreas
AU  - Tzschach A
AD  - Max Planck Institute for Molecular Genetics, Berlin, Germany. 
      tzschach@molgen.mpg.de
FAU - Krause-Plonka, Ines
AU  - Krause-Plonka I
FAU - Menzel, Corinna
AU  - Menzel C
FAU - Knoblauch, Andreas
AU  - Knoblauch A
FAU - Toennies, Holger
AU  - Toennies H
FAU - Hoeltzenbein, Maria
AU  - Hoeltzenbein M
FAU - Radke, Michael
AU  - Radke M
FAU - Ropers, Hans-Hilger
AU  - Ropers HH
FAU - Kalscheuer, Vera
AU  - Kalscheuer V
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abnormalities, Multiple/*genetics/pathology
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 10/*genetics
MH  - Developmental Disabilities/pathology
MH  - Female
MH  - Growth Disorders/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Muscle Hypotonia/pathology
MH  - Vulva/abnormalities
EDAT- 2006/04/19 09:00
MHDA- 2006/07/13 09:00
CRDT- 2006/04/19 09:00
PHST- 2006/04/19 09:00 [pubmed]
PHST- 2006/07/13 09:00 [medline]
PHST- 2006/04/19 09:00 [entrez]
AID - 10.1002/ajmg.a.31226 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2006 May 15;140(10):1108-10. doi: 10.1002/ajmg.a.31226.