Distal Monosomy 1q

Description

1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.

Clinical Features

Top most frequent phenotypes and symptoms related to Distal Monosomy 1q

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Low-set ears
  • Depressed nasal bridge
  • Epicanthus

And another 5 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Distal Monosomy 1q Is also known as telomeric deletion 1q, distal deletion 1q, monosomy 1qter.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Distal Monosomy 1q Recommended genes panels

Panel Name, Specifity and genes Tested/covered
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %
ZBTB18.

By Fulgent Genetics Fulgent Genetics (United States).

ZBTB18
Specificity
100 %
Genes
100 %
Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes.

By Reference Laboratory Genetics (Spain).

RPS6KA3, ST3GAL3, SLC6A8, SMARCA4, SMARCB1, ARID1A, KDM5C, STXBP1, SYNGAP1, SYP, TAF2, TSPAN7, MED12, TRIO, VLDLR, ZBTB18, ZNF711, FTSJ1, ERLIN2, CA8 , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
100 %
Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes.

By Reference Laboratory Genetics (Spain).

SMARCA4, SMARCB1, ARID1A, SYNGAP1, TRIO, ZBTB18, CACNG2, DEAF1, SETBP1, ADNP, ZMYND11, CDH15, ARID1B, POGZ, MBD5, KIRREL3, KANSL1, EHMT1, CTNNB1, TBL1XR1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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