The tale of a nail sign in chromosome 4q34 deletion syndrome.
Relatively, few reports of deletions involving the distal long arm of chromosome 4 (4q) exist. Five further cases are described and the findings are compared with those in previous literature reports. Distal 4q deletions may be recognized by the distinctive appearance of the fifth finger, which is stiff with a hypoplastic distal phalanx and a hooked or volar nail. All cases with this characteristic fifth finger anomaly appear to have deletions involving 4q34.
Vogt
Julie
J
Clinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, West Midlands, UK National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland NE Thames Regional Genetics Service-Clinical Genetics Unit, Great Ormond Street Hospital for Children NHS Trust, London, UK.
Ryan
Ethel
E
Tischkowitz
Marc D
MD
Reardon
William
W
Brueton
Louise A
LA
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000473:pathology; D005192:Family Health; D005260:Female; D050278:Finger Phalanges / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000473:pathology; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008875:Middle Aged; D009264:Nails, Malformed; D013577:Syndrome
D051792:Basic Helix-Loop-Helix Proteins; C498765:HAND2 protein, human