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GTR Home > Tests > qChip 60k prenatal

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Imported from OMIM

The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental retardation (Shapira et al., 1997). Monosomy 1p36 is the most common terminal deletion syndrome in humans, occurring in 1 in 5,000 births (Shaffer and Lupski, 2000; Heilstedt et al., 2003). See also neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH; 616975), which shows overlapping features and is caused by heterozygous mutation in the RERE gene (605226) on proximal chromosome 1p36. See also Radio-Tartaglia syndrome (RATARS; 619312), caused by mutation in the SPEN gene (613484) on chromosome 1p36, which shows overlapping features.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Aggressive behavior
  • Blepharophimosis
  • Primary dilated cardiomyopathy
  • Cleft upper lip
  • Constipation
  • Congenital hypothyroidism
  • Cryptorchidism
  • Dysphagia
  • Patent ductus arteriosus
  • Ebstein anomaly
  • Patent foramen ovale
  • Conductive hearing impairment
  • Sensorineural hearing impairment
  • Atrial septal defect
  • Ventricular septal defect
  • Hydrocephalus
  • Hypermetropia
  • Polyphagia
  • Hypertelorism
  • Hypothyroidism
  • Hypotonia
  • Myopia
  • Nystagmus
  • Obesity
  • Oppositional defiant disorder
  • Optic atrophy
  • Scoliosis
  • Seizure
  • Self-mutilation
  • Strabismus
  • Tetralogy of Fallot
  • Cataract
  • Bicuspid aortic valve
  • Impaired social interactions
  • Microtia
  • Coloboma of optic nerve
  • Corpus callosum, agenesis of
  • Frontal bossing
  • Brachycephaly
  • Brachydactyly
  • Ectopic kidney
  • Low-set ears
  • High palate
  • Rib fusion
  • Polymicrogyria
  • Leukoencephalopathy
  • Hypoplasia of the corpus callosum
  • Camptodactyly of finger
  • Upslanted palpebral fissure
  • Downslanted palpebral fissures
  • Deeply set eye
  • Synophrys
  • Posteriorly rotated ears
  • Submucous cleft hard palate
  • Delayed speech and language development
  • Growth delay
  • Delayed skeletal maturation
  • Optic disc pallor
  • Global developmental delay
  • Epicanthus
  • Hypsarrhythmia
  • Camptodactyly
  • Abnormal lung lobation
  • Pes cavus
  • Hypospadias
  • Asymmetry of the ears
  • Aortic root aneurysm
  • Hearing impairment
  • Epileptic spasm
  • Depressed nasal bridge
  • Prominent forehead
  • Thickened helices
  • 11 pairs of ribs
  • Noncompaction cardiomyopathy
  • Depressed nasal ridge
  • Short 5th finger
  • Pointed chin
  • Short foot
  • Wide nasal bridge
  • Clinodactyly of the 5th finger
  • Midface retrusion
  • Lateral ventricle dilatation
  • Malar flattening
  • Long philtrum
  • Wide anterior fontanel
  • Neonatal hypotonia
  • Feeding difficulties in infancy
  • Horizontal eyebrow
  • Visual impairment
  • Intellectual disability
  • Delayed closure of the anterior fontanelle
  • Infantile spasms
  • Delayed CNS myelination
  • Oral cleft
  • Abnormality of the hairline
  • Abnormality of the anus
  • Abnormal external genitalia
  • Metatarsus adductus
  • Gastroesophageal reflux
  • Bifid uvula
  • Abducens nerve palsy
  • Microcephaly
  • Cerebral cortical atrophy
  • Hip dysplasia
  • Bifid ribs
  • Pachygyria
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Conditions tested

Target population

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Detection of deletions and duplications with comparative array hybridization with 60.000 probes.

Citations

Not provided

Clinical validity

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Not provided

Clinical utility

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Establish or confirm diagnosis

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