6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities.
Interstitial deletions on the long arm of chromosome six have been described for several regions including 6q16, 6q22.1, and 6q21q22.1, and with variable phenotypes such as intellectual disability/developmental delay, growth retardation, major and minor facial anomalies. However, an isolated microdeletion of the sub-band 6q22.33 has not been reported so far and thus, no information about the specific phenotype associated with such a copy number variant is available. Here, we define the clinical picture of an isolated 6q22.33 microdeletion based on the phenotype of six members of one family with loss of approximately 1 Mb in this region. Main clinical features include mild intellectual disability and behavioral abnormalities as well as microcephaly, heart defect, and cleft lip and palate.
Institut f, ü, r Klinische Genetik, Medizinische Fakult, ä, t Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Luisa
L
Mackenroth
Institut f, ü, r Klinische Genetik, Medizinische Fakult, ä, t Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Karl
K
Hackmann
Institut f, ü, r Klinische Genetik, Medizinische Fakult, ä, t Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Anke
A
Beyer
Klinik und Poliklinik für Kinder-und Jugendmedizin, Universitätsklinikum Carl Gustav Carus, Dresden, Germany.
Jens
J
Schallner
Klinik und Poliklinik für Kinder-und Jugendmedizin, Universitätsklinikum Carl Gustav Carus, Dresden, Germany.
Barbara
B
Novotna
Institut f, ü, r Klinische Genetik, Medizinische Fakult, ä, t Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Barbara
B
Klink
Institut f, ü, r Klinische Genetik, Medizinische Fakult, ä, t Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Evelin
E
Schröck
Institut f, ü, r Klinische Genetik, Medizinische Fakult, ä, t Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Nataliya
N
Di Donato
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001519:Behavior; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D019066:Facies; D005190:Family; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics*; D008297:Male; D010375:Pedigree
6q22.33 microdeletion; CNV; intellectual disability; variable phenotype