Orphanet: 5q35 microduplication syndrome

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5q35 microduplication syndrome

ORPHA:228415

Classification level: Disorder

Synonym(s):
- Dup(5)(q35)
- Trisomy 5q35
Prevalence: <1 / 1 000 000
Inheritance: Not applicable or Unknown
Age of onset: Childhood
ICD-10: Q92.3
ICD-11: LD41.40
OMIM: -
UMLS: C4304526
MeSH: -
GARD: -
MedDRA: -

Summary

Epidemiology

It has been reported in two unrelated patients.

Clinical description

There is no remarkable facial dysmorphism. The clinical picture is opposite to that of patients with Sotos syndrome (macrocephaly, overgrowth and advanced bone age; see this term).

Etiology

This microduplication was identified by microarray-based comparative genomic hybridization (aCGH). The breakpoints of the duplication in both patients map to the proximal and distal low-copy repeats (LCRs), which flank the Sotos critical region. These findings support a non-allelic homologous recombination (NAHR) as the mechanism of duplication, and a dosage effect of the Sotos gene NSD1 (5q35).

Expert reviewer(s): Dr Nicole MORICHON-DELVALLEZ - Last update: August 2010

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5q35 microduplication syndrome

ORPHA:228415

Summary

Epidemiology

Clinical description

Etiology

A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010) Português (2010)

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