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Items: 2

1.

Potocki-Lupski syndrome

Potocki-Lupski syndrome is a developmental disorder characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, and congenital anomalies. All reported cases have occurred sporadically without bias in the parental origin of rearrangements. Most duplications are 3.7 Mb in size and only identifiable by array comparative genomic hybridization (CGH) analysis. Approximately 60% of PTLS patients harbor a microduplication of chromosome 17p11.2 reciprocal to the common recurrent 3.7-Mb microdeletion in SMS (summary by Shchelochkov et al., 2010). [from OMIM]

MedGen UID:
410082
Concept ID:
C1970482
Disease or Syndrome
2.

Chromosome 17, trisomy 17p11 2

MedGen UID:
447728
Concept ID:
CN036789
Disease or Syndrome

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