Díaz GM, García SG

Language: Spanish
References: 23
Page: 9-12
PDF size: 95.56 Kb.

ABSTRACT

We report on 12 years old patient, normal IQ, speech delay, learning disabilities and characteristics of behaviour: emotional liability, short lapses of attention and low tolerance to frustration, was referred for Fragile-X (FRAXA) testing.
No pathological prenatal and prenatal events were found. Heredity: aunt with delay speech. Physical features: normal hearing, midfacial hypoplasia, pseudosinofris, absence of nasofrontal angle, prognathism. Both ears were prominent with square lobes, tympanic membranes without abnormalities. The nares were broad and the alar cartilages hypoplastic, thin philtrum toward the right, obstructive hipertrofia of right turbinate, abnormal position of the teeth, the shape of the hard palate was oval and the position high, the uvula was deviated to the right. Macroorchidism, transverse fold palmar crease.
The chromosomal preparation of the cytogenetic study was performed cultivating lymphocytes using 3 methods for FRAXA induction, 300 metaphases was analized. The result were FRAXA positive with an the expression of 8%.
Is very important to perform the molecular study to detect the number of CGG repeats and to determine if this case is either a premutation or a full mutation and know if is a stable or unstable gene because is very important for the segregation.

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