[MIM 613 884]

(Monosomy 13 q)

Chromosome aberration (partial monosomy of the long arm of chromosome 13).

According to the importance of the deletion:

-        a predisposition to develop retinoblastoma; other ocular abnormalities may be associated with: cataract, microphthalmia, hypertelorism coloboma

-        mental retardation

-        a craniofacial malformation: wide front, prominence of the base of the nose which is short and bulbous, low ears the lobes of which are very developed, retrognathism

-        heart defects: VSD, supravalvular aortic stenosis,

-        genitourinary anomalies: cryptorchidism, hypospadias

-        malformations of the hands: absent or malformed thumbs

Other possible diseases in case of transfer of part of the long arm of chromosome 13:

-        q34: X of coagulation factor deficiency

-        q33: factor VII clotting deficiency

-        q32: holoprosencephaly

-        q31: type propionic acidemia A

-        q32: xeroderma pigmentosum group G

-        q22: Hirschsprung

-        q21: Wilson disease

-        q14: Aicardi-Goutieres syndrome

-        q14: osteosarcoma

-        q12.3: breast of genetic origin

-        q12: Troyer syndrome

-        q12: Charlevoix-Saguenay ataxia

-        q12: limb-girdle dystrophy

-        q12: deafness of genetic origin, DNFB1 locus

-        q11: genetic deafness

Anesthetic implications:

difficult intubation

References:

Updated: May 2016