Partial trisomy 3q due to a de novo translocation t(X;3) (p21;q12)

Oorthuys, J. W. E.; Slater, Rosalyn; Barrowclough, H; Kleine, Michael

doi:10.1111/j.1399-0004.1981.tb01817.x

Cited by 5 publications

(4 citation statements)

References 12 publications

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“…Based upon comparison of the duplicated segments of 3q and the clinical manifes- tations (Steinbach et al 1981, Rivera et al 1984, AnnCren & Gustavson 1984, Rosenfeld et al 1981, Williamson et al 1981, Oorthuys et al 1981 we conclude that dup of 3q25-qter is sufficient to lead to dup 3q syndrome. The mild symptoms in a girl with t(X;3)@22.3;q25.3) (Rivera et al 1984) and duplication of distal 3q(q25.3-qter) can easily be explained by partial inactivation of the additional autosomal segment.…”

Section: Biochemical Studiesmentioning

confidence: 77%

“…We also reviewed the same 22 patients concerning the frequency of parental balanced rearrangements causing dup 3q syndrome (Steinbach et al 1981, Rivera et al 1984, AnnCren & Gustavson 1984, Rosen-feld et al 1981, Williamson et al 1981, Oorthuys et al 1981. Thirteen (59%) wen secondary to familial balanced reatrangements with maternal origin in 10 cases and paternal origin in three cases.…”

Section: Counsellingmentioning

confidence: 98%

“…Length of survival was reviewed among 22 patients with dup 3q syndrome (Steinbach et al 1981, Rivera et al 1984, Anntren & Gustavson 1984, Rosenfeld et al 1981, Williamson et al 1981, Oorthuys et al 1981. Eight (36%) infants died within the first 12 months.…”

Section: Counsellingmentioning

confidence: 99%

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Partial trisomy 3q syndrome inherited from familal t(3;9) (q26.1;p23)*

et al. 1987

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A five‐year‐old girl was referred to prometaphase chromosome analysis because of mental retardation, facial dysmorphic features suggestive of Cornelia de Lange syndrome, cleft palate and additional minor congenital malformations of the cardiac System and fingers and toes. A familial balancee translocation (3;9)(q26.1;p23) was found. The karyotype of the proposita was 46,XX,der(9),t(3;9)(q26.1;p23). Thus the patient was trisomie for 3q26.1‐qter and mono‐somic for 9p23‐ptcr. The unbalanced chromosome constitution was not detected by standard Q‐banding analysis shortly after birth. The karyotype was misdiagnosed as 46,XX,9(p+) in the proposita and her mother, and thought to be a normal variant of chromosome 9. The repeated cytogenetic study led to the diagnosis of the translocation and to the possibility of prenatal diagnosis in the translocation carriers. A survey of 22 published cases of dup(3q) showed that nearly 60% were secondary to familial balanced rearrangements with an excess of maternally derived abnormal chromosomes 3. Red blood cell galactose‐ 1‐phosphate‐uridyltransferase (GALT) activity was normal in the patient, consistent with previous assignment of the gêne locus for GALT to 9pl3 (Shih et al. 1982).

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Section: Biochemical Studiesmentioning

confidence: 77%

Section: Counsellingmentioning

confidence: 98%

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Partial trisomy 3q syndrome inherited from familal t(3;9) (q26.1;p23)*

et al. 1987

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“…There have been seven other reports of X/autosome translocations involving a breakpoint at Xp21 (Table 3). These include three cases of inherited X/autosome translocations in which the probands had unbalanced karyotypes (Gaal & Laszlo 1977, Hagemeijer et al 1977, Morichon-Delvallez et al 1982, one case of an unbalanced karyotype in which family studies were not described (Mattei et al 1982) and three cases of de n o w translocations, two of which were un- Table 3 Karyotypes a n d phenotypes of patients with breakpoints i n Xp21 Biemont et al (1978) balanced (Oorthuys et al 1981, Disteche et al 1984) and one balanced (Laurent et al 1975, Biemont et al 1978. All three individuals with inherited unbalanced translocations received the translocated chromosome from their mothers, all of whom had normal phenotypes.…”

Section: Discussionmentioning

confidence: 99%

Xp21/autosome translocations

et al. 1986

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An isolated case of Duchenne muscular dystrophy in a 15‐year‐old retarded girl with a de novo t(X;2) (p21.2;q37) translocation is described. Her clinical history is presented, with particular emphasis on CK level determinations made at several different times during her development. The similarities between this patient and previously reported females with Duchenne muscular dystrophy are discussed with reference to de novo translocations with a breakpoint at Xp21 and the risk of DMD in such females.

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Further delineation of the dup(3q) syndrome

et al. 1985

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Three patients with duplication of 3q regions ranging from 3q25----qter to the entire long arm provide additional documentation of the dup(3q) malformation syndrome. Data on 40 cases now reported define a characteristic face with hirsutism, synophrys, broad nasal root, anteverted nares, downturned corners of the mouth, micrognathia, and malformed ears recognizable even in the 30-week fetus and distinct from that of the Brachmann-de Lange syndrome. Other characteristic anomalies include congenital heart anomalies involving primarily septal defects, hand malformations including simian creases, abnormal dermatoglyphics, clinodactyly or camptodactyly, omphalocele, skeletal anomalies, and genitourinary malformations. Severe mental and growth retardation are common in those patients (64%) who survive the first year. Chromosome study of relatives is extremely important for counseling because only 10 of 40 cases represented de novo duplications.

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Partial trisomy 3q due to a de novo translocation t(X;3) (p21;q12)

Cited by 5 publications

References 12 publications

Partial trisomy 3q syndrome inherited from familal t(3;9) (q26.1;p23)*

Partial trisomy 3q syndrome inherited from familal t(3;9) (q26.1;p23)*

Xp21/autosome translocations

Further delineation of the dup(3q) syndrome

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