Familial syndrome with some features of the Langer‐Giedion syndrome, and paracentric inversion of chromosome 8, inv 8 (q11.23&lt;q21.1)

Shabtai, Fiorella; Sandowski, U; Nissimov, R.; Klar, Dvora; Halbrecht, I

doi:10.1111/j.1399-0004.1985.tb02045.x

Cited by 12 publications

(1 citation statement)

References 9 publications

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“…LGS. Shabtai et al (1985) reported familial cases without sparse hair, long protruding ears, microcephaly, mental retardation or cone-shaped epiphyses, and their chromosomal deletion showed inv 8 (91 1.23-21.2). These may be more suggestive of variant types of hereditary multiple exostoses rather than LGS.…”

Section: Cytogenic Studies Discussionmentioning

confidence: 99%

Langer‐Giedion syndrome with del 8 (q24.13‐q24.22)

et al. 1987

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Section: Cytogenic Studies Discussionmentioning

confidence: 99%

Langer‐Giedion syndrome with del 8 (q24.13‐q24.22)

et al. 1987

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Tricho‐rhino‐phalangeal and branchio‐oto syndromes in a family with an inherited rearrangement of chromosome 8q

Haan¹,

Hull²,

White³

et al. 1989

Am. J. Med. Genet.

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Here we report on a family with an inherited rearrangement of chromosome 8q, dir ins(8)(q24.11q13.3q21.13). Individuals with the chromosome abnormality, which does not appear to be associated with deletion of chromosome material, have manifestations of both tricho-rhino-phalangeal syndrome (TRPS) and branchio-oto syndrome (BOS). TRPS has been linked previously to deletions involving 8q24.11----q24.13, but none of the described patients with deletions in this part of 8q have had characteristics of the BOS. The presence of a breakpoint in 8q24.11 without apparent chromosome deletion in the family described suggests that TRPS maps to this band of 8q. Further, it is suggested that BOS maps to either 8q13.3 or 8q21.13.

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Paracentric inversions in humans: A review of 446 paracentric inversions with presentation of 120 new cases

et al. 1995

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We present a large review of 446 cases of paracentric inversions (PAI), including 120 new cases, to assess their incidence, distribution, inheritance, modes of ascertainment, interchromosomal effects, viable recombinant offspring, and clinical relevance. All 23 autosomes and sex chromosomes had inversions. However, none were identified in chromosome arms 18p, 19q, 20q, and Yp. PAI were most commonly reported in chromosomes 1, 3, 5, 6, 7, 11, and 14 and less frequently in chromosomes 4, 16, 17, 18, 19, 20, 21, 22, and Y. Inversions were most common in chromosome arms 6p, 7q, 11q, and 14q and observed least in chromosome arms 2p, 2q, 3q, 4q, and 6q. Frequently encountered breakpoints included 3(p13p25), 6(p12p23), 6(p12p25), 7(q11q22), and 11(q21q23). Ascertainment was primarily incidental (54.5%), mental retardation and/or congenital anomalies (22.2%), spontaneous abortions (11.4%), associations with syndromes (3.0%), and infertility (2.0%) accounted for the remainder. Ascertainment was neither related to the length of the inverted segment nor to specific inversions except for PAI of Xq which often presented with manifestations of Ullrich-Turner syndrome. Sixty-six percent of PAI were inherited while 8.5% were de novo. Recombination was observed in 17 cases, 15 of which resulted in a monocentric chromosomal deletion or duplication. No common factors were identified that suggested a tendency towards recombination. The incidence of viable recombinants was estimated to be 3.8%. This review documents that PAI are perhaps more commonly identified than suggested in previous reviews. Despite the possible bias of ascertainment in some cases, there may be associated risks with PAI that require further examination. Our data suggest that PAI carriers do not appear to be free of risks of abnormalities or abnormal progeny and caution is recommended when counseling.

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Familial syndrome with some features of the Langer‐Giedion syndrome, and paracentric inversion of chromosome 8, inv 8 (q11.23<q21.1)

Cited by 12 publications

References 9 publications

Langer‐Giedion syndrome with del 8 (q24.13‐q24.22)

Langer‐Giedion syndrome with del 8 (q24.13‐q24.22)

Tricho‐rhino‐phalangeal and branchio‐oto syndromes in a family with an inherited rearrangement of chromosome 8q

Paracentric inversions in humans: A review of 446 paracentric inversions with presentation of 120 new cases

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