Interstitial Deletion of 14q,46,XY,del (14) (q24.3q32.1) Associated With Status Nonepileptic Myoclonia and Delayed Myelination

Abstract

A Japanese boy with interstitial deletion of the long arm of chromosome 14, including band 14q31, is described. The characteristic dysmorphic facial features, such as dolichocephaly, bushy eyebrows, horizontal narrow palpebral fissures, long philtrum, etc, and mental and motor developmental delay were observed. Other characteristic clinical manifestations were anuresis and status nonepileptic myoclonia. The finding of delayed myelination of the cerebral white matter was observed on magnetic resonance examination, suggesting that an unknown factor related to myelination in the central nervous system might be localized in band 14q31. (J Child Neurol 1999;14:756-758).

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References

Gilgenkranz S. , Cabrol C. , Laesecker C. , et al: Le syndrome Dr Etude d'un nouveau cas (46, XX, 14r). Ann Genet 1971;14:23-31.

Ono J. , Nishiike K. , Imai K. , et al: Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum. Pediatr Neurol 1999;20:70-72.

Telford N. , Thomson Dag , Griffiths MJ , et al: Terminal deletion (14)(q32.3): Anew case. J Med Genet 1990;27:261-263.

Turleau C. , de Grouchy J. , Chavin-Colin F. , et al: Two patients with interstitial del (14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin). Ann Genet 1984;27:237-240.

Kawamura G. , Suzuki M. , Segawa T. , Kohno S. : A case of partial monosomy of 14q. J Pediatr Pract (Jpn) 1985;48:32-34.

Yamamoto Y. , Sawa R. , Okamoto N. , et al: Deletion 14q (q24.1 to q32.1) syndrome: Significance of peculiar facial appearance in its diagnosis, and deletion mapping of Pi (α1-antitrypsin) Hum Genet 1986;74:190-192.

Yen F-S. , Podruch PE , Weisskoff B. : A terminal deletion (14) (q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation. J Med Genet 1989;26:130-133.

Gorski JL , Uhlmann WR , Glover TW : A child with multiple congenital anomalies and karyotype 46, XY, del (14) (q31q32.3): Further delineation of chromosome 14 interstitial deletion syndrome . Am J Med Genet 1990;37:471-474.

Karnitis SA , Burns K. , Sudduth KW , et al: Deletion (14) (q24.3q32.1): Evidence for a distinct clinical phenotype. Am J Med Genet 1992;44:153-157.

10.

Rivera H. , Ramirez-Duenas ML , Figuera LE , et al: Opposite imbalances of distal 14q in two unrelated patients . Ann Genet 1992;35:97-100.

11.

Byth BC , Costa MT , Teshima IE , et al: Molecular analysis of three patients with interstitial deletions of chromosome band 14q31. J Med Genet 1995 ;32:564-567.

12.

Ono J. , Harada K. , Hasegawa T. , et al: Central nervous system abnormalities in chromosome deletion at 11q23. Clin Genet 1994a;45:325-329.

13.

Ono J. , Harada K. , Yamamoto T. , et al: Delayed myelination in a patient with 18q-syndrome. Pediatr Neurol 1994b;11:64-67.

14.

Wintle RF , Costa T. , Haslam Rha , et al: Molecular analysis redefines three human chromosome 14 deletions . Hum Genet 1995;95:495-500.

15.

Cannizzaro LA , Chen YQ , Rafi MA , Wenger DA : Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization . Cytogenet Cell Genet 1994;66:244-245.