Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion.
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.
Tzschach
Andreas
A
Max Planck Institute for Molecular Genetics, Berlin, Germany. tzschach@molgen.mpg.de
Krause-Plonka
Ines
I
Menzel
Corinna
C
Knoblauch
Andreas
A
Toennies
Holger
H
Hoeltzenbein
Maria
M
Radke
Michael
M
Ropers
Hans-Hilger
HH
Kalscheuer
Vera
V
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002658:Developmental Disabilities / Q000473:pathology; D005260:Female; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009123:Muscle Hypotonia / Q000473:pathology; D014844:Vulva / Q000002:abnormalities