A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome

• Published in: Clinical genetics 2000-12, Vol.58 (6), p.483-487
• Main Authors: De Vries, Bba, Bitner-Glindzicz, M, Knight, Sjl, Tyson, J, MacDermot, Kd, Flint, J, Malcolm, S, Winter, Rm
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple - genetics; Biological and medical sciences; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 22; Cytogenetic Analysis; Humans; Male; Medical genetics; Medical sciences; Mental and behavioral disorders; Syndrome
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1034/j.1399-0004.2000.580610.x

Over recent years, submicroscopic subtelomeric rearrangements have been shown to be a significant cause of mental retardation and, therefore, such abnormalities should be considered in every child with moderate to severe retardation with additional features suggestive of a chromosomal abnormality. The FG syndrome is an X‐linked recessive mental retardation syndrome with congenital hypotonia, relative macrocephaly, a characteristic facies and constipation. 
We describe a severely mentally retarded boy with a history of severe constipation, truncal hypotonia, facial dysmorphism, fetal pads, and joint laxity, leading to an initial diagnosis of FG syndrome at the age of 3 years. Clinical re‐evaluation at the age of 6 years, when he showed signs of general overgrowth, initiated a telomere screen, and a submicroscopic 22q13.3 telomere deletion was detected. 
The features suggestive of FG syndrome in this boy with a 22q13.3→qter deletion may indicate testing for submicroscopic 22qter deletions in patients with atypical features of FG syndrome without a definite X‐linked family history.