ISCA-37501-Loss

17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Chromosome 17q23.1-q23.2 deletion syndrome, 613355, PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities, PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss
R-numbers: R88
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Chromosome 17q23.1-q23.2 deletion syndrome, 613355, PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities, PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Chromosome 17q23.1-q23.2 deletion syndrome, 613355, PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities, PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss