reply to the letter to the editor by zackai??deletion 4q34.2?
TRANSCRIPT
Letter to the Editor
Reply to the Letter to the Editor by Zackai—“Deletion 4q34.2”
To the Editor:
Thank you for bringing Dr. Zackai’s comments re-garding the clinical finding of a partially duplicated leftfifth finger in the patient we recently reported [Tsai etal., 1999] to our attention. We agree with the impor-tance of attention to detail in the physical examinationto identify clues to the underlying diagnosis. Unfortu-nately, when we saw this child at age 6, surgical cor-rection of the fifth digit had already been performed,and we were able to only note the partial deficiency ofthat finger. Our description of the partially duplicatedfifth finger anomaly was based on review of his medicalrecords only. We believe we stated clearly that thischild was born with a partially duplicated left fifth fin-ger that apparently included a duplication of the nail.We did not state, as Dr. Zackai has apparently inter-preted, that this patient had only a duplication of thenail. Thus, although it is always beneficial to evaluatepatients before cosmetic surgical correction, we werenot able to in this patient.
Furthermore, we would disagree with Dr. Zackai’scomment that the finger anomaly found in this patientis characteristic of deletion 4q and not VCFS. A recentreview of the skeletal anomalies and deformities in pa-tients with deletions of 22q11 [Ming et al., 1997], ofwhich Dr. Zackai was the senior author, notes that“seven of 108 (6%) patients had abnormalities of theupper limb detected on physical examination. Two ofthe 7 had unilateral preaxial polydactyly. One of thepatients had a duplicated distal phalanx and nail.”Thus, the digit anomaly in our patient appears to be
very similar to that reported by Dr. Zackai, additionalevidence that the initial impression of VCFS was a rea-sonable one to consider. As the title of our article im-plies, our patient had many other manifestations simi-lar to VCFS (hypernasal speech, submucous cleft pal-ate, minor facial features, learning disabilities, and aconotruncal heart defect) and, therefore, had a VCFS-like phenotype. We certainly did not mean to implythat another locus for VCFS is located on chromosomearm 4q. Rather, as we stated, the absence of a 22q11deletion but the identification of a 4q deletion in thispatient emphasizes the importance of obtaining akaryotype in addition to fluorescent in situ hybridiza-tion studies for 22q11. With the identification of themolecular basis of syndromes, more specific genotype-phenotype correlations will undoubtably be defined.
REFERENCESMing JE, McDonald-McGinn DM, Megerian TE, Driscoll DA, Elias ER,
Russell BM, Irons M, Emanuel BS, Markowitz RI, Zackai EH. 1997.Skeletal anomalies and deformities in patients with deletions of 22q11.Am J Med Genet 72:210–215.
Tsai C-H, Van Dyke DL, Feldman GL. 1999. Child with velocardiofacialsyndrome and del (4)(q34.2): another critical region associated with avelocardiofacial syndrome-like phenotype. Am J Med Genet 82:336–339.
Chun-Hui TsaiDaniel L. Van DykeGerald L. Feldman*Department of Medical GeneticsHenry Ford HospitalDetroit, Michigan
*Correspondence to: Gerald L. Feldman, M.D., Ph.D., Depart-ment of Medical Genetics, Henry Ford Hospital, 2799 W. GrandBlvd., Detroit, MI 48202. E-mail [email protected]
Received 12 April 1999; Accepted 12 April 1999
American Journal of Medical Genetics 86:198 (1999)
© 1999 Wiley-Liss, Inc.