Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.

[monosomy 21]

We report on a de novo interstitial deletion of chromosome 21 q in a patient presenting with characteristic facial features , intellectual disability , and epilepsy . The deletion extent was about 4 .9 Mb from position 37713441 bp (21 q 22 .13 ) to position 42665162 bp (21 q 22 .3 ) (NCBI 36 /hg 18 map ). Patients with partial monosomy 21 are quite rare ; this anomaly has been associated with a wide spectrum of clinical signs , ranging from very mild to quite severe phenotypes . This variability results from variability in the deleted regions , thus accurate molecular definition of the chromosomal breakpoints is necessary to make better genotype-phenotype correlations . We compared our patient 's phenotype with the few other patients reported in the literature and found to have similar deletion when analyzed by array CGH . The minimal overlapping region contains only two genes , DYRK 1 A and KCNJ 6 , which may play a major role in these patients ' phenotype .

Diseases
Validation

Diseases presenting "wide spectrum" symptom

22q11.2 deletion syndrome

acute rheumatic fever

adrenal incidentaloma

adrenomyeloneuropathy

alexander disease

allergic bronchopulmonary aspergillosis

canavan disease

classical phenylketonuria

focal myositis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

krabbe disease

lamellar ichthyosis

monosomy 21

neonatal adrenoleukodystrophy

oligodontia

primary hyperoxaluria type 1

proteus syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

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