Letter to the Editor

Deletion 4q34.2

To the Editor:

I read with interest Gerald L. Feldman’s article“Child With Velocardiofacial and del(4)(q34.2)” in theFebruary 12, 1999 issue of the journal. I want to em-phasize the importance of attention to detail in thephysical examination to identify clues to the underly-ing diagnosis.

The authors note that “the distal fifth phalanx wasremoved because of the duplicated dysplastic nail.” In1981 one of the cases (case 4) that I contributed toMitchell’s review of “Deletions of Different Segments ofthe Long Arm of Chromosome 4” had a deletion4q31.5→qter and a fifth finger with nails on both thedorsal and volar surfaces. In 1982 Tompkins reportedon a child with deletion 4q33→ter (case 2) “with camp-todactyly of the right fifth finger that had a hypoplastictip and drawn out pointed nail.” In 1982 Chudley et al.reported on a child with deletion 4q31 having “an un-usual left fifth finger (permanently extended with anail that looked like a ram’s horn) . . .”

Schinzel in his book Catalogue of Unbalanced Chro-mosome Aberrations in Man when commenting onChudley’s case states that the “stiff little fingers withhooked nails was already reported in some previouscases [e.g., Sandig et al., 1982] and thus is probablycharacteristic for this aberration.”

I have since had the experience of examining a childwith multiple anomalies who had the duplicated nailon the fifth finger (volar and dorsal surfaces) and cor-rectly predicted the 4q deletion karyotype.

In examining more than 250 patients with velocar-

diofacial syndrome I have never seen this characteris-tic fifth finger aberration. Thus, I take objection to thestatement that the “right fifth finger anomaly is . . .consistent with velocardiofacial syndrome.” I thinkthat the author’s contribution to the literature is a pa-tient with deletion 4q34.2 and that this should not becited as another critical region associated with velocar-diofacial syndrome. The authors have probably nar-rowed the critical region for this characteristic aber-rant nail finding to 4q34.2→ter.

REFERENCES

Chudley AE, Pabello PD, Bingham W, Goluboff N. 1982. Letter to theEditor: del(4)(q31) syndrome. Am J Med Genet 13:341–343.

Mitchell JA, Packman S, Loughman WD, Fineman RM, Zaickai E, PatilSR, Emanuel B, Bartley JA, Hanson JW. 1981. Deletions of differentsegments of the long arm of chromosome 4. Am J Med Genet 8:73–89.

Sandig KR, Mucke J, Trautmann U. 1982. The partial 4q monosomy reportof a 5-year-old boy with deletion 4q.31.3→4qter. Eur J Pediatr 138:254–257.

Schinzel, Albert. 1983. “Catalogue of Unbalanced Chromosome Aberra-tions in Man.” New York: de Gruyter.

Tompkins DJ, Hunter AGW, Uchida IA, Roberts MH. 1982. Two childrenwith deletion of the long arm of chromosome 4 with breakpoint at bandq33. Clin Genet 22;348–355.

Tsai C, Van Dyke DL, Feldman GL. 1999. Child with velocardiofacial syn-drome and del(4)(q34.2): another critical region associated with a ve-locardiofacial syndrome-like phenotype. Am J Med Genet 82:336–339.

Elaine H. Zackai*Department of PediatricsUniversity of Pennsylvania School of MedicinePhiladelphia, Pennsylvania

*Correspondence to: Elaine H. Zackai, M.D., Director, ClinicalGenetics Center, The Children’s Hospital of Philadelphia, Profes-sor of Pediatrics, University of Pennsylvania School of Medicine,34th and Civic Center Boulevard, Wood Building Room 1080,Philadelphia, PA 19104. E-mail: zackai@email.chop.edu

Received 2 March 1999; Accepted 12 April 1999

American Journal of Medical Genetics 86:197 (1999)

© 1999 Wiley-Liss, Inc.