An r(22)(p11 leads to q13) in a moderately mentally retarded girl

An r(22) was detected in a 6-year-old female patient with growth retardation, IQ of 45, and a lower quotient for verbal performance. She presents some other minor anomalies. The break and fusion points probably were at p11 and q13.

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Bibliographic Details
Published in:Human genetics 1979-10, Vol.51 (2), p.157-162
Main Authors: Aller, V, Abrisqueta, J A, de Torres, M L, Martín-Lucas, M A, Pérez-Castillo, A, Del Mazo, J
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Adult
Child
Chromosomes, Human, 13-15
Chromosomes, Human, 21-22 and Y
Chromosomes, Human, 6-12 and X
Dermatoglyphics
Female
Humans
Intellectual Disability - genetics
Male
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Description
Summary:An r(22) was detected in a 6-year-old female patient with growth retardation, IQ of 45, and a lower quotient for verbal performance. She presents some other minor anomalies. The break and fusion points probably were at p11 and q13.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00287170