Partielle Trisomie des kurzen Arms eines Chromosoms Nr. 4 in der Folge einer Translokation t(4p-22p+)

Metz, Frauke; Bier, Lukas; Pfeiffer, R. A.

doi:10.1007/bf00290598

Cited by 11 publications

(5 citation statements)

References 2 publications

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“…The patient had a 46,=,-22tder (22) chromosome constitution. Giemsa, R,C,T and Q banding studies showed that the mother (111-4) and the younger half-brother (IV-5) were respectively 46,XX,t(4p-;22pt) and 46,XY,t(4p-;22pt) balanced translocation carriers.…”

Section: Cytogenetic Studiesmentioning

confidence: 98%

“…The patient is severely mentally retarded. Her chromosome analysis showed a 47,XX,+der (22) constitution. Her mother and sister are balanced translocation carriers; their karyotype is 46,XXrcp(4;22) (4p22;4q22q).…”

Section: Cytogenetic Studiesmentioning

confidence: 98%

“…Thus, the patient is trisomic for the region 4p-+4pter. The patient's karyotype is: 46,XY,der (22), t(4;22) (p 14;p12)mat.…”

Section: Cytogenetic Studiesmentioning

confidence: 99%

“…Reviewing informative pedigrees of these families we found: one abortion and a stillbirth in family 7; a stillborn in family 10; one abortion in family 13; 5 abortions, 2 stillbirths and 8 infant deaths (3 with multiple congenital malformations) in family 18; and 4 spontaneous abortions in family 22. In family 8 there were several balanced translocation carriers; a first cousin of Cases 10 and 11 died at 14 years and almost certainly had 4p trisomy; another cousin who died at 12 hours of life with respiratory distress syndrome also had several findings of 4p trisomy.…”

Section: Cytogenetic Findingsmentioning

confidence: 99%

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The trisomy 4p syndrome: Case report and review

Gonzalez¹,

Sommer

Meisner

et al. 1977

Am. J. Med. Genet.

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We report a further case of trisomy 4p: a 5-year-old mentally retarded boy with characteristic facial features, eye abnormalities, flexion contractures, several bone anomalies, and hyperactivity. In a review of 27 cases (11 male, 16 female, 22 families) the cytogenetic and clinical data were tabulated and analyzed. Diagnosis is established by karyotype: there is always partial or apparently "total" trisomy of the short term arm of chromosome 4. In 19 families a parent carried either a balanced translocation (16 times) or a pericentric inversion (3 times); 3 patients had de novo duplication of 4p. In several cases, additional deletions or trisomies were present. From the analysis of all cases, but particularly of the "pure" trisomies, the phenotypic spectrum of this condition was observed and found to be a specific multiple congenital anomaly/mental retardation (MCA/MR) syndrome. Its main features are a characteristic facial appearance, postnatal growth retardation, severe psychomotor retardation with or without seizures, microcephaly, and various major and minor anomalies.

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Section: Cytogenetic Studiesmentioning

confidence: 98%

Section: Cytogenetic Studiesmentioning

confidence: 98%

“…Thus, the patient is trisomic for the region 4p-+4pter. The patient's karyotype is: 46,XY,der (22), t(4;22) (p 14;p12)mat.…”

Section: Cytogenetic Studiesmentioning

confidence: 99%

Section: Cytogenetic Findingsmentioning

confidence: 99%

See 2 more Smart Citations

The trisomy 4p syndrome: Case report and review

Gonzalez¹,

Sommer

Meisner

et al. 1977

Am. J. Med. Genet.

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“…The phenotypic as well as the radiological patterns have already been described in detail (3). Stunting of growth is of variable degree: out of 10 cases found in literature the height of 5 was c t h e 3rd percentile (2, 9, 10, ll), in 3 s the 10th percentile (12,13,14) and in 2sthe 25th percentile. No endocrinological assessment of this syndrome has yet been obtained; the purpose of the present paper is to fill this gap, with data collected from two sisters (fig.…”

mentioning

confidence: 99%

ENDOCRINE ASPECTS OF TRISOMY 4p

Giovannelli¹,

Bernasconi²,

Forabosco³

1977

Acta Paediatrica

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The main endocrinological parameters were investigated in two sisters affected with trisomy 4p. Our findings rule out any impairment of the endocrine system in this rare syndrome, even in those cases in which stunting of growth is more pronounced. The marked weight deficit in one of the two patients had no relationship to the chromosomal anomaly; it was determined by the association of a deficit of immunoglobulin with a Giardia Lamblia infestation.

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4p trisomy syndrome: Report of 4 additional cases and segregation analysis of 21 families with different translocations

Crane¹,

Sujansky²,

Smith³

et al. 1979

Am. J. Med. Genet.

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Thirty reports of partial 4p trisomy have been published. The manifestations and cytogenetic findings in four additional cases from two families are described in the present paper. Segregation analysis has been performed on the 21 families reported to date. The risk of having unbalanced offspring was the same in carrier mothers and carrier fathers. The risk of trisomic offspring was 14%. Among phenotypically normal progeny, normal karyotypes and balanced translocation states occurred with about equal frequency.

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Partielle Trisomie des kurzen Arms eines Chromosoms Nr. 4 in der Folge einer Translokation t(4p-22p+)

Cited by 11 publications

References 2 publications

The trisomy 4p syndrome: Case report and review

The trisomy 4p syndrome: Case report and review

ENDOCRINE ASPECTS OF TRISOMY 4p

4p trisomy syndrome: Report of 4 additional cases and segregation analysis of 21 families with different translocations

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