Precise identification of various chromosomal abnormalities

Hirschhorn, Kurt; Lucas, Mary; Wallace, Isla

doi:10.1111/j.1469-1809.1973.tb00601.x

Cited by 92 publications

(23 citation statements)

References 9 publications

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“…Our Patient 3 closely resembles this syndrome (Table 11). This clinical evidence supports the cytogenetic interpretation of duplication of the distal 4q, while analysis of the banding pattern suggests that the duplicated segment is inverted, similar to a patient reported as Case 3 by Dutrillaux et al (1 2) and wide-set eyes in common with the patient of Hirschhorn et al (13). She has the "eyelid folds" present in 5 of 6 cases summarized by Alfi et al (14), and her facial appearance is similar to Case 1 reported by Hsu et al (15).…”

Section: Discussionsupporting

confidence: 75%

Inverted tandem (“mirror”) duplications in human chromosomes: Inv dup 8p, 4q, 22q

et al. 1977

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We have studied 4 patients with inverted tandem duplications of parts of chromosomes, a hitherto rarely identified form of a structural rearrangement involving a single chromosome in man. In patients 1 and 2, the duplication involved parts of the short arm of chromosome 8 (regions 8p12 leads to 8p23 and 8p21 leads to 8p23, respectively). Both patients manifested certain characteristics of the mosaic trisomy 8 syndrome. Elevated levels of glutathione reductase (GSR) in their erythrocytes supported the interpretation of a partial duplication of chromosome 8 and indicated a regional localization for the GSR gene locus. In Partient 3, the distal half of the long arm of chromosome 4 was duplicated (region 4q23 leads to 4q35). Clinical evidence supported this interpretation, as Patient 3 resembled phenotypically the 13 reported cases with duplication of the distal 4q. The cytogenetic findings in Patient 4 suggested a possibly inverted duplication of 22q. The clinical correlation was less convincing due to the lack of a well-defined phenotype for trisomy 22. These chromosome aberrations had occurred de novo in all 4 cases. Although they involved different chromosomal regions, they might well have arisen by the same mechanism. Possible modes of origin that are discussed in detail include unequal exchange between homologous chromosomes, between chromatids of 1 chromosome or between strands of 1 DNA duplex.

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Section: Discussionsupporting

confidence: 75%

Inverted tandem (“mirror”) duplications in human chromosomes: Inv dup 8p, 4q, 22q

et al. 1977

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“…The sex ratio was 16M:15F. In 14 families the abnormal chromosome was inherited from carrier mothers [Insley, Rushton, andJones, 1968, confirmed by Hirschhorn, Lucas, andWallace, 1973;Hustinx et al, 1974;Schleiermacher, Schliebitz, and Steffens, 1974;Cantu et al, 1975;Nagakome and Kobayashi, 1975;Magenis et al, 1975;Turleau et al, 1976;Stengel-Rukowslu et al, 1977;Penchaszadeh and COCO, 1977;Lurie et al, 1978;Back et al, 1978;De Chieri, Spatuzza, and Bonich, 1978;Delicado et al, 1979;Stoll and Willard, 19801. In seven families [Grosse et al, 1975;Yunis, Silva, and Giraldo, 1976;MoriC-PetroviC et al, 1976;Johnson et al, 1977;Rolland et al, 1977;Rochon et al, 19791, the carriers were the fathers.…”

Section: Discussionmentioning

confidence: 64%

Duplication 10p in a girl due to a maternal translocation t(10;14) (p11:p12)

et al. 1983

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We present a dup (10p) due to a t(10;14) (p11;p12)mat with a malformation syndrome in a girl. The analysis of 37 published cases shows that 31 patients (16 males; 15 females) had either a mother or a father carrying a balanced translocation; one case was due to a paternal and another due to a maternal pericentric inversion; two cases were due to de novo translocations; one case had a partial duplication of 10p; and one case had a supernumerary ring chromosome composed of 10p material. The phenotypic spectrum of the condition was analyzed. It is a specific multiple congenital anomalies/mental retardation (MCA/MR) syndrome which includes characteristic facial appearance (dolichocephaly, frontal bossing, short nose with a broad root, highly arched and upswept eyebrows, long philtrum, and thin lips), postnatal growth retardation, severe mental and psychomotor retardation, and several major and minor anomalies. Pseudohermaphroditism seems to be an important anomaly being present in 15 to 20% of affected males. A hypothenar crease together with a transverse crease forming a "crease triangle" seems a helpful sign in the clinical diagnosis of duplication 10p.

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“…The first report of clinically and cytogeneticallysuspected live-born infants with trisomy 22 was in 1971 by Hsu et al, but the chromosome re-arrangement was later suspected of being the result of a translocation. Hirschhorn et al [1973] reported the first Gbanded proven case. All reported cases have had 47 chromosomes due to an additional chromosome 22, except for one report with a possible t(21;22) [Lalchev et al, 1978] and one with a 46,XX,+idic(22)(qter→p1125:: p1125→qter) karyotype [Voiculescu et al, 1987].…”

Section: Introductionmentioning

confidence: 97%