TY - JOUR
T1 - 6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities
AU - Mackenroth, Luisa
AU - Hackmann, Karl
AU - Beyer, Anke
AU - Schallner, Jens
AU - Novotna, Barbara
AU - Klink, Barbara
AU - Schröck, Evelin
AU - Di Donato, Nataliya
N1 - Publisher Copyright:
© 2015 Wiley Periodicals, Inc.
PY - 2015/11
Y1 - 2015/11
N2 - 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 1Mb in this region. Main clinical features include mild intellectual disability and behavioral abnormalities as well as microcephaly, heart defect, and cleft lip and palate.
AB - 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 1Mb in this region. Main clinical features include mild intellectual disability and behavioral abnormalities as well as microcephaly, heart defect, and cleft lip and palate.
KW - 6q22.33 microdeletion
KW - CNV
KW - Intellectual disability
KW - Variable phenotype
UR - http://www.scopus.com/inward/record.url?scp=84947034146&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.37266
DO - 10.1002/ajmg.a.37266
M3 - Article
C2 - 26334553
AN - SCOPUS:84947034146
SN - 1552-4825
VL - 167
SP - 2800
EP - 2807
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 11
ER -