New insights into the phenotypes of 6q deletions.
Deletions of chromosome 6q are rare. We report 3 new patients with 6q deletions. Case 1 is a male with an interstitial deletion [del(6)(q13q14.2)], hypotonia, speech delays, and minor anomalies. Case 2 is a male with an interstitial deletion [del(6)(q16.2q22.32)] and malformations, including truncus arteriosus and bilateral oligodactyly. Case 3 is a male with a terminal deletion [del(6)(q25.2)] with retinal pits, hydrocephalus, atrioventricular canal, and hydronephrosis. The findings in our patients and those from 57 previously reported cases demonstrated 3 phenotypic groups associated with 6q deletions. Group A [del(6)(q11-q16)] had a high incidence of hernias, upslanting palpebral fissures, and thin lips with lower frequency of microcephaly, micrognathia, and heart malformations. Group B [del(6)(q15-q25)] was associated with increased intrauterine growth retardation, abnormal respiration, hypertelorism, and upper limb malformations. Group C [del(6)(q25-qter)] was associated with retinal abnormalities, cleft palate, and genital hypoplasia. The only universal finding among all patients with 6q deletions was mental retardation. Other findings common to all 3 groups included ear anomalies (90%), hypotonia (82%), and postnatal growth retardation (68%).
Hopkin
R J
RJ
Children's Hospital Research Foundation, Cincinnati, Ohio 45229-3039, USA.
Schorry
E
E
Bofinger
M
M
Milatovich
A
A
Stern
H J
HJ
Jayne
C
C
Saal
H M
HM
D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D004423:Ear / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000235:genetics / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics / Q000473:pathology; D010641:Phenotype