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Biomedical subjects

M Azou

Publications and source records attributed to M Azou.

7 recordsLinked to original sources
PubMed1998

Terminal deletion of chromosome 10q26: delineation of two clinical phenotypes.

We present genotype-phenotype correlations in two patients with distal 10q deletion. A patient with a small terminal deletion presented mild mental retardation and behavioral difficulties with hyperactivity, whereas the patient with a larger deletion, had multiple congenital anomalies and moderate mental retardation. Our observation confirms the previous suggestion that larger deletions of distal chromosome 10q are associated with a more severe clinical presentation, whereas hyperactive behavior may be a specific feature of small terminal deletions of chromosome 10q26.

Abnormalities, Multiple↗
PubMed1993

Gastroenteric cyst.

The authors report a rare case of gastroenteric cyst in a 4-day-old baby with increasing cyanosis. CT and MRI demonstrated a posterior mediastinal cystic mass, which finally was characterised by pathology as a gastroenteric cyst.

Cysts↗
PubMed1981

Centromeric instability of chromosomes 1, 9, and 16 associated with combined immunodeficiency.

Instability of the centromeric regions of chromosomes 1, 9, and 16 in cultured lymphocytes of an 8-month-old girl with malabsorption and combined immunodeficiency is reported. Together with the two previous reports on this condition, the present report seems to confirm the specific association of combined immunodeficiency and centromeric instability of chromosomes 1, 9, and 16 with multibranching.

Cells, Cultured↗
PubMed1981

A malformed newborn with 9p and 4q trisomy.

A malformed male newborn with partial trisomy 9p (qter-9q13) and distal 4q trisomy (4qter-4q31), being the unbalanced product of a balanced reciprocal translocation in the mother karyotype: 46,XX,t(4;9)(q31;q13) is reported. Besides the typical craniofacial stigmata of pure 9q trisomy the child presented with poor neurological condition and failure to thrive.

Abnormalities, Multiple↗