Unknown

Dataset Information

0

Duplication of 19p13.3 in 11-Year-Old Male Patient with Dysmorphic Features and Intellectual Disability: A Review.


ABSTRACT: We present a clinical report of an 11-year-old male patient with an interstitial duplication of 19p13.3 (829?kb in size) at genomic coordinates 3,804,495-4,033,722?bp (hg19) identified by chromosomal microarray analysis and review the literature from nine published reports adding knowledge regarding this chromosomal anomaly and clinical outcomes. The size of the duplication ranged from 0.83 to 8.9 Mb in the nine individuals. The young boy in our report was dysmorphic with microcephaly, abnormal craniofacial features, intellectual disability, aggression, and a heart murmur. All patients were found to have a psychomotor developmental delay and/or intellectual disability with the majority having microcephaly, intrauterine growth retardation, and hypotonia. Common craniofacial findings included a tall, prominent forehead, an elongated face, epicanthal folds, hypertelorism, prominent low-set ears, philtrum anomaly, and a small mouth. Other less common features included abnormal digits, sparse hair, and cardiac defects. Clinical features, chromosome duplication sizes, locations, and the number of genes will be summarized in a tabular form.

SUBMITTER: Novikova I 

PROVIDER: S-EPMC5683958 | biostudies-other | 2017 Dec

REPOSITORIES: biostudies-other

altmetric image

Publications

Duplication of 19p13.3 in 11-Year-Old Male Patient with Dysmorphic Features and Intellectual Disability: A Review.

Novikova Irina I   Sen Paushpala P   Manzardo Ann A   Butler Merlin G MG  

Journal of pediatric genetics 20170602 4


We present a clinical report of an 11-year-old male patient with an interstitial duplication of 19p13.3 (829 kb in size) at genomic coordinates 3,804,495-4,033,722 bp (hg19) identified by chromosomal microarray analysis and review the literature from nine published reports adding knowledge regarding this chromosomal anomaly and clinical outcomes. The size of the duplication ranged from 0.83 to 8.9 Mb in the nine individuals. The young boy in our report was dysmorphic with microcephaly, abnormal  ...[more]

Similar Datasets

| S-EPMC4772714 | biostudies-literature
| S-EPMC5668960 | biostudies-literature
| S-EPMC5707190 | biostudies-literature
| S-EPMC4678794 | biostudies-literature
| S-EPMC9649592 | biostudies-literature
| S-EPMC10712293 | biostudies-literature
| S-EPMC3919428 | biostudies-literature
| S-EPMC5448135 | biostudies-literature
| S-EPMC5384096 | biostudies-literature
| S-EPMC7349372 | biostudies-literature