TY - JOUR
T1 - The rare 13q33–q34 microdeletions
T2 - eight new patients and review of the literature
AU - Sagi-Dain, Lena
AU - Goldberg, Yael
AU - Peleg, Amir
AU - Sukenik-Halevy, Rivka
AU - Sofrin-Drucker, Efrat
AU - Appelman, Zvi
AU - Josefsberg, Ben Yehoshua Sagi
AU - Ben-Shachar, Shay
AU - Vinkler, Chana
AU - Basel-Salmon, Lina
AU - Maya, Idit
N1 - Publisher Copyright:
© 2019, Springer-Verlag GmbH Germany, part of Springer Nature.
PY - 2019/10/1
Y1 - 2019/10/1
N2 - The objective of this study is to shed light on the phenotype and inheritance pattern of rare 13q33–q34 microdeletions. Appropriate cases were retrieved using local databases of two largest Israeli centers performing CMA analysis. In addition, literature search in PubMed, DECIPHER and ClinVar databases was performed. Local database search yielded eight new patients with 13q33.1–q34 microdeletions (three of which had additional copy number variants). Combined with 15 cases detected by literature search, an additional 23 cases were reported in DECIPHER database, and 17 cases from ClinVar, so overall 60 patients with isolated 13q33.1–q34 microdeletions were described. Developmental delay and/or intellectual disability were noted in the vast majority of affected individuals (81.7% = 49/60). Of the 23 deletions involving the 13q34 cytoband only, in 3 cases, developmental delay and/or intellectual disability was not reported. Interestingly, in two of these cases (66.7%), the deletions did not involve the terminal CHAMP1 gene, as opposed to 3/20 (15%) of patients with 13q34 deletions and neurocognitive disability. Facial dysmorphism and microcephaly were reported in about half of the overall cases, convulsions were noted in one-fifth of the patients, while heart anomalies, short stature and hypotonia each involved about 10–30% of the cases. None of the 13q33–q34 deletions were inherited from a reported healthy parent. 13q33–q34 microdeletions are rare chromosomal aberrations, associated with high risk for neurodevelopmental disability. The rarity of this chromosomal aberration necessitates continuous reporting and collection of available evidence, to improve the ability to provide accurate genetic counseling, especially in the context of prenatal setting.
AB - The objective of this study is to shed light on the phenotype and inheritance pattern of rare 13q33–q34 microdeletions. Appropriate cases were retrieved using local databases of two largest Israeli centers performing CMA analysis. In addition, literature search in PubMed, DECIPHER and ClinVar databases was performed. Local database search yielded eight new patients with 13q33.1–q34 microdeletions (three of which had additional copy number variants). Combined with 15 cases detected by literature search, an additional 23 cases were reported in DECIPHER database, and 17 cases from ClinVar, so overall 60 patients with isolated 13q33.1–q34 microdeletions were described. Developmental delay and/or intellectual disability were noted in the vast majority of affected individuals (81.7% = 49/60). Of the 23 deletions involving the 13q34 cytoband only, in 3 cases, developmental delay and/or intellectual disability was not reported. Interestingly, in two of these cases (66.7%), the deletions did not involve the terminal CHAMP1 gene, as opposed to 3/20 (15%) of patients with 13q34 deletions and neurocognitive disability. Facial dysmorphism and microcephaly were reported in about half of the overall cases, convulsions were noted in one-fifth of the patients, while heart anomalies, short stature and hypotonia each involved about 10–30% of the cases. None of the 13q33–q34 deletions were inherited from a reported healthy parent. 13q33–q34 microdeletions are rare chromosomal aberrations, associated with high risk for neurodevelopmental disability. The rarity of this chromosomal aberration necessitates continuous reporting and collection of available evidence, to improve the ability to provide accurate genetic counseling, especially in the context of prenatal setting.
UR - http://www.scopus.com/inward/record.url?scp=85069182599&partnerID=8YFLogxK
U2 - 10.1007/s00439-019-02048-y
DO - 10.1007/s00439-019-02048-y
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C2 - 31321490
AN - SCOPUS:85069182599
SN - 0340-6717
VL - 138
SP - 1145
EP - 1153
JO - Human Genetics
JF - Human Genetics
IS - 10
ER -