Association of familial duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22

Abstract

We report a spectrum of defects that were found in an 18-year-old girl who presented for investigation of primary amenorrhea. The patient was found to have Duane anomaly, left renal agenesis, absent uterus, bilateral sensorineural deafness, and bilateral preauricular skin tags and sinuses. Investigation of her family showed that her brother also had Duane anomaly, right renal agenesis, sensorineural deafness, and preauricular skin tags and that their father had preauricular skin tags. Cytogenetic analysis, including in situ hybridisation of peripheral blood lymphocytes, demonstrated a supernumerary bisatellited marker chromosome derived from the region of chromosome 22pter-q11 in the affected individuals. Our findings indicate that a gene or genes located in the region of chromosome 22pter-q11 may be associated with the Duane anomaly and the development of the urogenital tract.

Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene

“…This interpretation is in agreement with FISH experiments using clone 910F5 and the more proximal overlapping clones 937E2 or 751A2, showing very small signals on der (8). FISH analysis of interphase nuclei, in addition to signals on normal chromosome 8 and der(6), also showed two tiny signals corresponding to 910F5 and 937E2 or 751A2 (Figure 5b).…”

“…The deleted region spanned from YAC clone 942E7 to 820E6, whilst the 8q region inserted on to chromosome 6q25 included the more distal clones 876D10 to 944C9 (Table 1). Clone 910F5, mapping between 820E6 and 876D10, disclosed signals on to 6q25 and der (8). The concurrence of 910F5 signals both on der(8) and der (6) suggests that the deletion and the insertion occurred on to two distinct segments separated by a region included in YAC 910F5 which maintained its original location in 8q.…”

“…In fact a few atypical cases of Duane syndrome have been described in association with deafness, renal defects, muscular, and skeletal anomalies [4][5][6][7] and chromosome imbalances. [7][8][9][10] In particular a contiguous gene syndrome consisting of Duane syndrome, branchio-oto-renal syndrome (BOR), hydrocephalus and trapeze aplasia was found in a patient with 8q12.2-q21.2 deletion. 7 We report on an insertion deletion of chromosome 8q13-q21.2 in a patient presenting with Duane syndrome type I, severe mental retardation, and minor limbs abnormalities.…”

A family with Duane anomaly and distal limb abnormalities: A further family with the arthrogryposis‐ophthalmoplegia syndrome

“…Cytogenetic abnormalities in patients with Duane anomaly suggest a further locus at 8q13 [Pizzuti et al, 2002]. Other possible loci include 22q [Cullen et al, 1993;Versteegh et al, 2000] and 4q [Chew et al, 1995]. Duane anomaly can also be associated with Townes-Brocks syndrome caused by mutations of SALL1 on 16q12.1 [Kohlhase et al, 1999].…”

CCDD Phenotype Associated with a Small Chromosome 2 Deletion

“…However, genetic causes of DRS and other CCDDs are not always monogenic in origin. A number of syndromic DRS patients have now been reported in association with a variety of different chromosomal copy number variations (CNVs) [16][17][18][19][20] and structural changes including deletion(s), 16,17 duplication(s), translocation(s), 21 and the presence of a marker chromosome. 22,23 Recent advances in high-resolution array-comparative genomic hybridization (array CGH) have improved detection capabilities into the range of 1 Kb, 24 increasing dramatically the ability to detect small, potentially symptomatic CNVs.…”