Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.
We report on a 42-year-old female patient with an interstitial 16 Mb deletion in 7q21.1-21.3 and a balanced reciprocal translocation between chromosomes 6 and 7 [karyotype 46,XX,t(6;7)(q23.3;q32.3)del(7)(q21.1q21.3)de novo]. We characterized the size and position of the deletion by tiling path array comparative genomic hybridization (CGH), and we mapped the translocation breakpoints on chromosomes 6 and 7 by FISH. The clinical features of this patient-severe mental retardation, short stature, microcephaly and deafness-are in accordance with previously reported patients with 7q21 deletions. Chromosome band 7q21.3 harbors a locus for split hand/split foot malformation (SHFM1), and part of this locus, including the SHFM1 candidate genes SHFM1, DLX5, and DLX6, is deleted. The absence of limb abnormalities in this patient suggests either a location of the SHFM1 causing factor distal to this deletion, or reduced penetrance of haploinsufficiency of a SHFM1 factor within the deleted interval.
Tzschach
Andreas
A
Max Planck Institute for Molecular Genetics, Berlin, Germany. tzschach@molgen.mpg.de
Menzel
Corinna
C
Erdogan
Fikret
F
Schubert
Marei
M
Hoeltzenbein
Maria
M
Barbi
Gotthold
G
Petzenhauser
Christine
C
Ropers
Hans-Hilger
HH
Ullmann
Reinhard
R
Kalscheuer
Vera
V
D000328:Adult; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D002897:Chromosomes, Human, Pair 7; D003638:Deafness / Q000235:genetics / Q000473:pathology; D004392:Dwarfism / Q000235:genetics; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D008831:Microcephaly / Q000235:genetics / Q000473:pathology; D008957:Models, Genetic; D020411:Oligonucleotide Array Sequence Analysis; D046988:Proteasome Endopeptidase Complex / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic
C100596:DLX5 protein, human; C491014:DLX6 protein, human; D018398:Homeodomain Proteins; C484606:SEM1 protein, human; D014157:Transcription Factors; D046988:Proteasome Endopeptidase Complex