A patient with partial duplication 2q and partial deficiency 11q

Abstract

A patient with partial duplication 2q and partial deficiency 11q is reported. The propositus was delivered at 30 weeks gestation, with a birth weight of 1,390 g. He had severe hyaline membrane disease, intraventricular hemorrhage, bronchopulmonary dysplasia, hypotonia, psychomotor retardation, hearing loss, and other anomalies including a short bitemporal diameter, prominent occiput, low-set ears, exophthalmos, short nose with depressed nasal root, downturned mouth corners, narrow high-arched palate, micrognathia, a deep longitudinal groove over the sacrococcygeal region, clinodactyly, and abnormal dermatoglyphics. Chromosome analysis showed the following karyotype: 46,XY,der11,t(2:11)(q32.2;q25)pat.

Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34‐year‐old patient with Jacobsen syndrome

“…Many syndromes are associated with hearing impairment. In patients with chromosomal 11 deletions, sensorineural deafness has been occasionally reported [Ho et al, 1987; Megarbane et al, 2002]. Other groups report normal hearing with difficulties in processing auditory informations that lead to speech delay as a manifestation of 11q deletion [Mulcahy and Jenkyn, 1977].…”

Case of partial duplication 2q3 with characteristic phenotype: Rare occurrence of an unbalanced offspring resulting from a parental pericentric inversion

“…In addition, the clinical findings in this patient may be more representative of the true trisomy 2q3 phenotype due to the lack of a significant partial monosomy, which have been associated with the majority of previous cases. Ricci et al, 1968;Forabosco et al, 1973;Rosenthal et al, 1974;Warren et al, 1975;Zabel et al, 1976;Cotlier et al, 1977;Turleau et al, 1977;Laurent et al, 1978;Wisniewski et al, 1978;Zankl et al, 1979;Giliberti et al, 1980;Howard-Peebles and Goldsmith, 1980;Plessis et al, 1985;Lurie et al, 1986;Ardinger et al, 1987;Ho et al, 1987;Katsushim et al, 1987. b Porter et al, 1991 Couturier et al, 1977;Dennis et al, 1978;Barnicoat et al, 1997. d Yu and Chen, 1982;Dahoun-Hadorn and Bretton-Chappuis, 1992;Romain et al, 1994. e Richter et al, 1989. …”