Parental origin of the X chromosomes in Rett syndrome.
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Blotting, Southern↗
Biomedical subjects
C Turleau
Publications and source records attributed to C Turleau.
Monosomy 10qter.
An 11-year-old girl with 10q26qter deletion is described and compared with another patient reported in the literature. The most characteristic features of monosomy 10qter seem to be: severe mental retardation; growth retardation; microcephaly; and facial dysmorphism with a long and triangular facies, a broad and prominent nasal bridge, a poorly developed tip of the nose, a short philtrum, and flattened angles of the mandible. Several of these features are opposed in type and countertype to features of trisomy 10qter.
Child↗
Cytogenetic investigation in 413 couples with spontaneous abortions.
413 couples with one or more spontaneous miscarriages were karyotyped. Observed chromosomal rearrangements were classified as major rearrangements, i.e. Robertsonian and reciprocal translocations, pericentric and paracentric inversions, supernumerary small metacentrics, and minor rearrangements, i.e. pericentric inversions of chromosome 9, and constitutional fragility of particular chromosome sites. 2.30% of the individuals were carriers of a major rearrangement, which represents a ten-fold increase when compared to the general population. The contribution of each type of rearrangement is unequal, the most important being pericentric inversions (36 times more frequent than in the general population). Contrary to data from the literature, the probability of finding a rearrangement does not seem to increase with the number of miscarriages.
Abortion, Spontaneous↗
Distal trisomy 17q.
A 3-year-old, male patient with trisomy 17q231qter due to a paternal t(5;17)(p151;q231) is compared to three other patients reported in the literature who are trisomic for the same segment due to a familial t(17;21)(q23;q22). The features common to the four patients are: profound mental retardation; dwarfism; frontal bossing and temporal retraction; narrow squinty eyes; thin lips with overlapping of the lower lip by the upper lip; very low-set and abnormal ears; cleft palate; and hyperlaxity of the ligaments. It thus seems possible to delineate a new cytogenetic syndrome.
Abnormalities, Multiple↗
[46,XX/46,XX,del (10) (p13)/47,XX,+r/47,XX,del (10) (p13), + r mosaicism and partial trisomy 10p phenotype (author's transl)].
The mosaicism 46,XX/46,XX,del(10)(p13)/47,XX, +r/47,XX,del(10)(p13), +r was found in the lymphocytes and the fibroblasts of a patient with the following : profound mental retardation; craniofacial dysmorphism with frontal bossing, fine eyebrows, a large hypoplastic nasal bridge, prognathism of the upper jaw, thick lips; a long and thin neck; congenital heart disease; skeletal malformations, with club feet; and hypotonia and lax ligaments. These malformations, compatible with the trisomy 10p syndrome, suggest that the supernumerary ring chromosome was composed of 10p material. An increase of HK1 and GOT1 activities was found. This is in favour of a partial trisomy of chromosome 10. The relative frequencies of the clones constituting the mosaic vary from tissue to tissue and with time.
Abnormalities, Multiple↗
[Sex linked mental deficiency, unusual facies, macroorchidism and fragile site on chromosome X (author's transl)].
The association of mental deficiency, macroorchidism, and a fragile site on chromosome X [fra (X)(q28) is reported in a 13-year-old boy who also exhibits a peculiar facies reminescent of trisomy 8. This particular facies is considered part of the clinical syndrome associated with the fra(X)(q28). The fra(X)(q28) was not found in the mother nor in two normal sibs of the propositus. The significance of the marker is discussed in view of two hypotheses, close linkage between pathological gene(s) and the fra(X)(q28) and faulty transcription of the gene(s) beyond the tra(X)(q28).
Adolescent↗
[Monosomy 7qter (author's transl)].
A de novo terminal del (7)(q35) was found in a 3-month-old girl referred because of a peculiar cry. This observation, with seven others from the literature permit the delineation of a syndrome characterized by severe microcephaly with a flattened occiput, a bulbous nose, a "double chin", and a broad thorax with widely spaced nipples, without internal organ malformations. Assays of Hageman factor (XII) revealed normal values. The proposita is heterozygous Jk (a + b +). The parents and the proposita are iny-1.
Abnormalities, Multiple↗
Chromosomal phylogeny of the primates.
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Animals↗
[Intercalary deletions of 9q].
Two interstitial deletions of different segments of 9q are reported. The first deletion (9/11q22) was seen in an 8-year-old boy with severe psychomotor retardation and descrete facial dysmorphism. The second deletion (9q32q34) was seen in a 5-month-old boy with a very peculiar cranio-facial dysmorphism including brachycephaly, frontal bossing, a deep nasal bridge, a short nose, and absence of triradii b, c and d.
Abnormalities, Multiple↗
[Satellited Y chromosome (Yqs) and nucleolar organizer occurring de novo].
A satellited Y chromosome (Yqs) occurred de novo in a boy born to first cousins. The child had severe mental retardation, facial dysmorphism, congenital heart disease, and amaurosis, and died at 6 months and of age. The chromosome rearrangement was confirmed by R-, G-, C-, Q-, and Ag-NOR banding. Its significance and the difficulty of genetic counseling are discussed.
Cell Nucleolus↗
[Trisomy 13qter by tandem duplication 46, XX, dir dup 13 (q21 qter), 9qh+].
A tandem translocation of chromosome 13-46,XXdup13(q21 leads to qter)--occurred de novo in a patient with the following features: normal birthweight; early feeding difficulties; mild psychomotor retardation; low set hairline on the forehead; thick eyebrows; long, upturned eyelashes; pointed nose; micrognathia; large, flat, posteriorly rotated ears; multiple hemangiomata; normal hematological status. The hypothesis of an unequal crossing-over is discussed, as well as the possibility of constructing a phenotypic map of chromosome 13.
Abnormalities, Multiple↗
[Del (13) (q33). Exclusion of esterase D (ESD) from 13q33 and q34].
A de novo del (13) (q33) was found in a 14-month-old boy with hypospadias. Phenotype anomalies included growth retardation, psychomotor retardation (QD = 64), microcephaly with brachycephaly, a round, flat and asymmetrical facies, a normal nose bridge, a small, pointed chin. The patient is heterozygous ESD 2-1. The gene localization may thus be excluded from bands 13q33 and q34 and assigned to bands q31 or q32, if its previous assignment to the q3 region is confirmed.
Abnormalities, Multiple↗
Familial t(X;2) (p223;q323) with partial trisomy 2q and male and female balanced carriers.
A familial t(X;2) (p223;q323) is responsible for partial trisomy 2q in the proposita, a 3-year-old girl with severe mental retardation and hypotrophia. It is present in the balanced state in the mother, two daughters, and one son. X-replication was studied after BUDR incroporation and acridine orange staining. The reproductive impairment of balanced X/autosome translocations is discussed.
Child, Preschool↗
Trisomy 18qter and trisomy mapping of chromosome 18.
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Abnormalities, Multiple↗
[Ring of the chromosome 4. II. Without facial dysmorphism].
A r(4) was observed in a 5-year-old female patient, with growth retardation, a near normal psychomotor development and with no major dysmorphism. The break points were in p16 and q33. After comparison with other known observations of r(4) it is suggested that the phenotype of monosomy 4p is due to monosomy for the distal band 4p16.
Child, Preschool↗
[Distal trisomy 15q].
A patient with distal 15q trisomy resulting from malsegregation of a maternal t(13;15)(q33;q21.2) showed the following symptoms: micro-dolichocephaly, palpebral fissures slightly oriented downwards and outwards, a large nose, pronounced micrognathia, prominent authelices, ligamental abnormalities, osseous malformations evocative of diastrophic dwarfism, severe congenital heart defect, and profound encephalopathy. He died at five months of age. This observation is compared with two others from the literature.
Abnormalities, Multiple↗
Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34.
Quantitative red cell adenylate kinase (AK-1) assay has been used in 8 patients with partial duplication or deletion of chromosome 9 in an attempt to find the precise intrachromosomal location of the structural gene locus. All regions of chromosome 9 are represented in abnormal dosage in at least one patient. A 43% increase in AK-1 activity was found to be associated with duplication of the terminal band of the long arm of chromosome 9. Duplication of all other parts of chromosome 9 were associated with normal enzyme activity. These findings not only confirm the assignment of the AK-1 locus to chromosome 9 made previously in somatic cell hybrids, but suggest a more precise assignment to region 9q33 leads to qter. This places the ABO:Np-1:AK-1 linkage group at the distal end of the long arm of chromosome 9.
ABO Blood-Group System↗