Biomedical subjects

K Devriendt

Publications and source records attributed to K Devriendt.

183 records · Page 11Linked to original sources

PubMedDate not supplied

Cryptic translocation t(5;18) in familial mental retardation.

A cryptic translocation t(5;18)(qter;qter) was detected in a large family, using a FISH-based approach combining subtelomeric probes to allow the subtelomeric regions of most chromosome ends to be analysed for deletions and balanced or unbalanced translocations. Unbalanced karyotypes (duplication 5qter/deficiency 18qter) resulted in a previously undescribed association of moderate to severe mental retardation, microcephaly, pre- and postnatal growth retardation, distinct facial dysmorphism, narrow auditory canals, genital hypoplasia, left heart hypoplasia in one patient and severe behaviour difficulties in another. Some of the features observed in affected individuals are characteristic of known syndromes involving either 18q (growth deficiency, nystagmus, narrow auditory canals, genital hypoplasia, behaviour problems in 18q deletion syndrome) or 5q (umbilical and inguinal hernias, congenital heart defects in distal 5q trisomy).

Abnormalities, Multiple↗

PubMedDate not supplied

Xp22.3; Yq11.2 chromosome translocation and its clinical manifestations.

We report clinical and molecular investigations in a boy with karyotype 46,Y,der(X)t(X;Y)(qter-->p22.3::q11.21-->qter) and his mother with karyotype 46,X,der(X)t(X;Y)(qter-->p22.3::q11.21-->qter). Haplo-insufficiency for the Xp22.3-->pter chromosomal region in the boy resulted in postnatal growth retardation, developmental delay, partial ichthyosis and facial dysmorphism, but normal external genitals. His mother has a normal phenotype with normal stature and gonadal function but borderline intelligence. FISH-analysis showed a duplication of the Y-heterochromatin probe in the proband and a deletion of the Y933D4 probe in his mother. Molecular investigations situated the Xp22.3 breakpoint between DXS278 and the KAL gene and the Yq11.21 breakpoint between the DYS391 and DYS390 in the proband and his mother. X-inactivation study was performed by analysis of the polymorphic CAG-repeat in the androgen-receptor gene as described showing a normal random (40% versus 60%) inactivation pattern in the mother. The manifestations in male and female with loss of the Xp22.3-->pter and gain of the Yq11.21-->qter chromosomal region are discussed.

Abnormalities, Multiple↗

PubMedDate not supplied

Unilateral Peters' anomaly in a patient with DiGeorge syndrome.

We report a case of unilateral Peters' anomaly in a 3-month-old infant with a microdeletion in chromosome 22q11.2, a finding not previously described. This anterior segment anomaly can be explained by a problem in neural crest development, as neural crest cells are known to play a role in the developmental defects of this disorder.

Chromosome Deletion↗