Clinical characterization of individuals with the distal 1q21.1 microdeletion.

Edwards, Stacey D; Schulze, Katharina V; Rosenfeld, Jill A; Westerfield, Lauren E; Gerard, Amanda; Yuan, Bo; Grigorenko, Elena L; Posey, Jennifer E; Bi, Weimin; Liu, Pengfei

Edwards, Stacey D; Schulze, Katharina V; Rosenfeld, Jill A; Westerfield, Lauren E; Gerard, Amanda; Yuan, Bo; Grigorenko, Elena L; Posey, Jennifer E; Bi, Weimin; Liu, Pengfei.

Affiliation

Edwards SD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Schulze KV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Westerfield LE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Gerard A; Texas Children's Hospital, Houston, Texas, USA.
Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Grigorenko EL; Texas Children's Hospital, Houston, Texas, USA.
Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Bi W; Baylor Genetics, Houston, Texas, USA.
Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

Am J Med Genet A ; 185(5): 1388-1398, 2021 05.

Article in En | MEDLINE | ID: mdl-33576134

Subject(s)

Abnormalities, Multiple/genetics; Heart Defects, Congenital/genetics; Intellectual Disability/genetics; Megalencephaly/genetics; Microcephaly/genetics; Abnormalities, Multiple/diagnosis; Abnormalities, Multiple/physiopathology; Adolescent; Adult; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 1/genetics; DNA Copy Number Variations/genetics; Developmental Disabilities/complications; Developmental Disabilities/genetics; Developmental Disabilities/physiopathology; Failure to Thrive/complications; Failure to Thrive/genetics; Failure to Thrive/physiopathology; Female; Genetic Counseling; Genetic Testing/methods; Heart Defects, Congenital/complications; Heart Defects, Congenital/diagnosis; Heart Defects, Congenital/physiopathology; Humans; Infant; Intellectual Disability/complications; Intellectual Disability/diagnosis; Intellectual Disability/physiopathology; Male; Megalencephaly/complications; Megalencephaly/diagnosis; Megalencephaly/physiopathology; Microcephaly/complications; Microcephaly/diagnosis; Microcephaly/physiopathology; Pedigree; Seizures/complications; Seizures/genetics; Seizures/physiopathology; Young Adult

Key words

1q21.1 deletion; chromosomal microarray; copy number variant; developmental delay; neuropsychiatric disorder

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Megalencephaly / Heart Defects, Congenital / Intellectual Disability / Microcephaly Type of study: Diagnostic_studies / Prognostic_studies Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: United States Country of publication: United States

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