Chromosome 15q26-qter Deletion Syndrome

Description

Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.

Clinical Features

Top most frequent phenotypes and symptoms related to Chromosome 15q26-qter Deletion Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Pica
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Growth delay
  • Micrognathia
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Incidence and onset information

Not enough data available about incidence and published cases.


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Chromosome 15q26-qter Deletion Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Coarctation of the aorta.

By Centogene AG - the Rare Disease Company in Germany.

MCTP2
Specificity
100 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
100 %
Congenital heart diseases Panel.

By Health in Code in Spain.

ELN, EYA4, FOXC1, PITX2, JAG1, NPHP4, RAF1, BRAF, CHD7, CREBBP, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, NF1 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
100 %
MCTP2.

By Fulgent Genetics Fulgent Genetics in United States.

MCTP2
Specificity
100 %
Genes
100 %

Alternate names

Chromosome 15q26-qter Deletion Syndrome Is also known as drayer syndrome;15q26 deletion syndrome; distal 15q deletion syndrome; monosomy 15q26; telomeric 15q deletion syndrome.



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