3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?
We describe three unrelated patients of European descent carrying an overlapping 3q26.33-3q27.2 microdeletion who share common clinical features: neonatal hypotonia, severe feeding problems, specific facial features, abnormal dentition, recurrent upper airways infections, developmental delay and severe growth impairment. One of the patients carries a smaller deletion and presents a milder phenotype. We propose that 3q26.33-3q27.2 microdeletion may represent a novel condition caused by the haploinsufficiency of dosage sensitive genes, several of which are involved in brain development.
Division of Medical Genetics, Galliera Hospital, Via Volta 6, 16128 Genova, Italy.
Giorgia
G
Mandrile
Anna
A
Dubois
Jodi D
JD
Hoffman
Vera
V
Uliana
Emilio
E
Di Maria
Michela
M
Malacarne
Domenico
D
Coviello
Francesca
F
Faravelli
Simon
S
Zwolinski
Stephen
S
Hellens
Michael
M
Wright
Francesca
F
Forzano
D000293:Adolescent; D002648:Child; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D063169:Dentofacial Deformities / Q000175:diagnosis / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics*; D017384:Sequence Deletion; D013577:Syndrome; D044465:White People