Interstitial deletion of the distal long arm of chromosome 4.
We report the first case of an interstitial deletion of the distal long arm of chromosome 4 (q31.22----q34.2). The major clinical features are described and compared to those of other published reports of del 4q, mainly those sharing a common deleted segment with the present case (both interstitial and terminal). This comparison suggests that the characteristic phenotype attributed to terminal deletions of 4q31----qter probably mainly results from loss of the segment q31----q33-34.
Sarda
P
P
Department of Pediatrics and Medical Genetics, University of Montpellier, Hôpital Saint-Charles, France.
Lefort
G
G
Fryns
J P
JP
Humeau
C
C
Rieu
D
D
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D007621:Karyotyping; D012886:Skull / Q000002:abnormalities