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Dup(lq)(q42→qter) syndrome: Case report and review of literature

✍ Scribed by Kennerknecht, Ingo ;Barbi, Gotthold ;Rodens, Klaus

Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
347 KB
Volume
47
Category
Article
ISSN
0148-7299

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✦ Synopsis

We report on a patient with primordial growth retardation, mental retardation, and minor anomalies (triangular face, open sagittal suture, frontal bossing, telecanthus, upturned nose, micrognathia, and small mouth with downturned corners). The diagnosis of Russell-Silver syndrome (RSS) had been considered but was abandoned when cytogenetic evaluation showed a partial trisomy lq or duplication lq (46,XY,15, + der(15)t(1;15)(q42; qter). Data from another 5 reports of dup(l)(q42+qter) d o not allow delineation of a typical syndrome. However, individuals with dup(lq), del(l5q), and Russell-Silver syndrome share common manifestations (i.e., low birth weight, growth retardation, triangular face, low set/abnormal ears, micrognathia, renal anomalies). o 1993 Wiley-Lisa, Inc.

KEY WORDS chromosome 1, chromosome duplication, partial trisomy (lq)

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