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Zhiqing Liang - One of the best experts on this subject based on the ideXlab platform.
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distinct Karyotypes in two offspring of a man with jumping translocation Karyotype 45 xy der 16 t 16 22 q24 q11 2 22 59 45 xy der 1 t 1 22 p36 q11 2 22 11 45 xy der 22 t 22 22 p13 q11 2 22 10
American Journal of Medical Genetics Part A, 2014Co-Authors: Hong Yao, Yanlin Dong, Yang Long, Zhiqing LiangAbstract:We examined a man and his daughter, who both had different jumping translocation Karyotypes. The man's wife was pregnant and had been referred for prenatal diagnosis of the fetus. The Karyotype of the husband's peripheral blood lymphocytes was 45,XY,der(16)t(16;22)(q24;q11.2), -22 [59]/45,XY,der(1)t(1;22)(p36;q11.2), -22 [11]/45,XY,der(22)t(22;22)(p13;q11.2), -22 [10]. The Karyotype of the daughter's peripheral blood lymphocytes was 45,XX,der(16)t(16;22)(q24;q11.2), -22 [45]/45,XX,der(9)t(9;22)(q34;q11.2), -22 [30]/45,XX,der(5)t(5;22)(q35;q11.2), -22 [25]. The wife and the fetus both had a normal Karyotype. To the best of our knowledge, the present familial transmitted jumping translocation has not been previously described and the jumping translocation in the husband and daughter did not cause any phenotypic abnormalities.
Hong Yao - One of the best experts on this subject based on the ideXlab platform.
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distinct Karyotypes in two offspring of a man with jumping translocation Karyotype 45 xy der 16 t 16 22 q24 q11 2 22 59 45 xy der 1 t 1 22 p36 q11 2 22 11 45 xy der 22 t 22 22 p13 q11 2 22 10
American Journal of Medical Genetics Part A, 2014Co-Authors: Hong Yao, Yanlin Dong, Yang Long, Zhiqing LiangAbstract:We examined a man and his daughter, who both had different jumping translocation Karyotypes. The man's wife was pregnant and had been referred for prenatal diagnosis of the fetus. The Karyotype of the husband's peripheral blood lymphocytes was 45,XY,der(16)t(16;22)(q24;q11.2), -22 [59]/45,XY,der(1)t(1;22)(p36;q11.2), -22 [11]/45,XY,der(22)t(22;22)(p13;q11.2), -22 [10]. The Karyotype of the daughter's peripheral blood lymphocytes was 45,XX,der(16)t(16;22)(q24;q11.2), -22 [45]/45,XX,der(9)t(9;22)(q34;q11.2), -22 [30]/45,XX,der(5)t(5;22)(q35;q11.2), -22 [25]. The wife and the fetus both had a normal Karyotype. To the best of our knowledge, the present familial transmitted jumping translocation has not been previously described and the jumping translocation in the husband and daughter did not cause any phenotypic abnormalities.
Kerstin Landinwilhelmsen - One of the best experts on this subject based on the ideXlab platform.
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the proportion of diploid 46 xx cells increases with time in women with turner syndrome a 10 year follow up study
Genetic Testing and Molecular Biomarkers, 2015Co-Authors: Annamaria Denes, Inger Bryman, Kerstin Landinwilhelmsen, Yvonne Wettergren, Charles HansonAbstract:In the normal population, loss of one of the sex chromosomes leading to monosomy (45,X) is a part of the aging process. In Turner syndrome (TS), the classic Karyotype 45,X is found in up to 50% at birth, and others have a second cell line; mosaicism. The aim was to study if the chromosomal pattern in TS women changes over time. Fluorescence in situ hybridization was performed on buccal smear cells obtained twice, 10 years apart, from 42 women with TS aged 26-66 years (mean +/- standard deviation: 42.0 +/- 11.6). DNA probes specific for chromosomes X (DXZ1) and Y (DYZ3) were used and >100 cells were analyzed/patient. Nineteen women had monosomy (45,X) (<10% 46,XX), nine had 45,X/46,XX mosaicism, and 14 had iso, ring, or a marker chromosome at baseline. At 10 years, the percentage of diploid cells had increased in 29 of 42 women (69%), with an average increase of 5.7 +/- 13.0%. There was a positive correlation between age and % change in diploid 46,XX or 46,XY cells (r=0.38, p=0.023). This new finding might have relevance for the life expectancy in TS.
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hypothyroidism is common in turner syndrome results of a five year follow up
The Journal of Clinical Endocrinology and Metabolism, 2005Co-Authors: Mostafa Elmansoury, Inger Bryman, Kerstin Berntorp, Charles Hanson, Lars Wilhelmsen, Kerstin LandinwilhelmsenAbstract:Turner syndrome (TS) is caused by a sex chromosome aberration. The aim was to study the prevalence and incidence of thyroid disease in adults with TS. Women with TS (n = 91; mean age, 37.7 +/- 11 yr) were compared with an age-matched female random population sample (n = 228). At baseline, 15 (16%) TS women were treated for hypothyroidism, and elevated serum TSH was found in another eight (9%). As a result, hypothyroidism was more common in women with TS (25%) than in controls (2%; P < 0.0001). Serum free T-4 was lower (P = 0.02), and serum TSH was higher (P < 0.0001) in TS women than in age-matched controls. Of all TS women with hypothyroidism, 10 (43%) had an elevated thyroid peroxidase antibody titer vs. 15 (22%) of those without hypothyroidism (P < 0.05), evenly distributed between the Karyotype 45, X and mosaicism. A high body mass index, but not a family history or blood lipids, was associated with hypothyroidism in TS. After the 5-yr follow-up, an additional 11 (16%) developed hypothyroidism, of whom four (36%) had elevated thyroid peroxidase. Altogether, 34 (37%) TS women had hypothyroidism after the 5-yr follow-up. Autoimmune hypothyroidism was common, with an annual incidence of 3.2% in TS. Thyroid function should be checked regularly in TS.
Charles Hanson - One of the best experts on this subject based on the ideXlab platform.
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the proportion of diploid 46 xx cells increases with time in women with turner syndrome a 10 year follow up study
Genetic Testing and Molecular Biomarkers, 2015Co-Authors: Annamaria Denes, Inger Bryman, Kerstin Landinwilhelmsen, Yvonne Wettergren, Charles HansonAbstract:In the normal population, loss of one of the sex chromosomes leading to monosomy (45,X) is a part of the aging process. In Turner syndrome (TS), the classic Karyotype 45,X is found in up to 50% at birth, and others have a second cell line; mosaicism. The aim was to study if the chromosomal pattern in TS women changes over time. Fluorescence in situ hybridization was performed on buccal smear cells obtained twice, 10 years apart, from 42 women with TS aged 26-66 years (mean +/- standard deviation: 42.0 +/- 11.6). DNA probes specific for chromosomes X (DXZ1) and Y (DYZ3) were used and >100 cells were analyzed/patient. Nineteen women had monosomy (45,X) (<10% 46,XX), nine had 45,X/46,XX mosaicism, and 14 had iso, ring, or a marker chromosome at baseline. At 10 years, the percentage of diploid cells had increased in 29 of 42 women (69%), with an average increase of 5.7 +/- 13.0%. There was a positive correlation between age and % change in diploid 46,XX or 46,XY cells (r=0.38, p=0.023). This new finding might have relevance for the life expectancy in TS.
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hypothyroidism is common in turner syndrome results of a five year follow up
The Journal of Clinical Endocrinology and Metabolism, 2005Co-Authors: Mostafa Elmansoury, Inger Bryman, Kerstin Berntorp, Charles Hanson, Lars Wilhelmsen, Kerstin LandinwilhelmsenAbstract:Turner syndrome (TS) is caused by a sex chromosome aberration. The aim was to study the prevalence and incidence of thyroid disease in adults with TS. Women with TS (n = 91; mean age, 37.7 +/- 11 yr) were compared with an age-matched female random population sample (n = 228). At baseline, 15 (16%) TS women were treated for hypothyroidism, and elevated serum TSH was found in another eight (9%). As a result, hypothyroidism was more common in women with TS (25%) than in controls (2%; P < 0.0001). Serum free T-4 was lower (P = 0.02), and serum TSH was higher (P < 0.0001) in TS women than in age-matched controls. Of all TS women with hypothyroidism, 10 (43%) had an elevated thyroid peroxidase antibody titer vs. 15 (22%) of those without hypothyroidism (P < 0.05), evenly distributed between the Karyotype 45, X and mosaicism. A high body mass index, but not a family history or blood lipids, was associated with hypothyroidism in TS. After the 5-yr follow-up, an additional 11 (16%) developed hypothyroidism, of whom four (36%) had elevated thyroid peroxidase. Altogether, 34 (37%) TS women had hypothyroidism after the 5-yr follow-up. Autoimmune hypothyroidism was common, with an annual incidence of 3.2% in TS. Thyroid function should be checked regularly in TS.
J P Fryns - One of the best experts on this subject based on the ideXlab platform.
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fertility and x chromosome rearrangements isodicentric x chromosome formation in the mother and xp deletion in her daughter
Clinical Genetics, 2008Co-Authors: J P Fryns, A Kleczkowska, P Debucquoy, H Van Den BergheAbstract:Abstract In the present paper we report the first example of fertility in a female with isodicentric X-formation and Karyotype 45,X/46,X,del(X)(pter----p21.3)/46,X,idic(X)(qter----p21.3::p21.3- ---qter). Her daughter was phenotypically almost normal and presented a 46,X,del(X)(pter----p21.3) Karyotype in all examined cells.
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lobar holoprosencephaly in 18pter deletion resulting from the Karyotype 45 x 18 der 8 18 t 8 18 pter p11 21
Genetic Counseling, 2008Co-Authors: Ingrid Witters, Irina Balikova, M Cannie, Koenraad Devriendt, De Catte L, J P FrynsAbstract:We report the prenatal diagnosis of lobar holoprosencephaly in a patient with an interesting karyotypic anomaly. A non-consanguineous couple with one healthy daughter was referred at 22 weeks for a fetal cleft lip. Ultrasound revealed a median cleft lip/ palate and also a lobar holoprosencephaly with absence of the cavum septum pellucidum/corpus callosum and fusion of the frontal lobes. This was confirmed by MRI (Fig. 1a). Karyotype on amniotic fluid cells snowed a terminal deletion of the short arm of chromosome 18 as the result of an unbalanced translocation of chromosome 18 on chromosome 8 with Karyotype 45,X,-18,der (8;18)t(8;18)(pter;pll.21) (Fig. Ib). Additional FISH with subtelomere probes of chromosome 18 showed a subtelomeric deletion of 1 8pter. FISH with centromere probes of chromosome 8 and 18 showed that the chromosome is a dicentric chromosome with an active centromere 8 and an inactive centromere 18 (Fig. lc-d). By oligo-array CGH the size of the 18pter deletion was determined to be 16.79 Mb (Fig. 2). Chromosomal analysis in both parents was normal confirming the de novo origin of the unbalanced translocation in the fetus. The present fetus has a 18 ? terminal deletion, known to cause holoprosencephaly and this deletion is the result of an unbalanced translocation of chromosome 18 on chromosome 8 resulting in a dicentric chromosome with an active centromere 8 and an inactive centromere 18. Monosomy of the short arm of chromosome 18 was first reported by de Grouchy et al. (3). Most cases are due to de novo deletions but about 16% of the cases are the result of a whole arm translocation between chromosome 18 and another chromosome, often an acrocentric chromosome, predominantly chromosome 21 and 22 (4, 8). Clinical manifestations include mental- and growth retardation, craniofacial dysmorphism, limb, genital, eye and brain anomalies. Holoprosencephaly can be present (5, 9). Holoprosencephaly is the most common developmental defect of the forebrain occurring in 1/16000 live births. In early embryogenesis its incidence is much higher (1/240). The etiology of holoprosencephaly is heterogeneous. Identifiable genetic causes account for about 15-20% of all cases of holoprosencephaly, both chromosomal and monogenic (autosomal-dominant/recessive and X-linked). Known chromosomal causes are 18p deletion, trisomy 13, deletion 13q, trisomy 18, deletion 7qter, triploidy, and duplication 3p (1). Known mutated genes in holoprosencephaly are sonic hedgehog (SHH) located on 7q36, transcription factors (ZIC2) located on 13 q32, SIX3 located on 2p21, GLI 2 located on 2ql4, transforming growth factor interacting factor (TGIF) located on 18pll.3, FASTI located on 8q24.3, teratocarcinoma-derived growth factor 1 (TDGF 1 ) located on 3p21-p23,DHCR7 located on llql2-ql 3, patched 1 (PTCHl) located on 9p22.3 (2). Environmental factors known to be important in the pathogenesis of holoprosencephaly include poorly controlled diabetes type I (HbAlc>7.5), alcohol and vitamin A analogues. The severest form is alobar holoprosencephaly with an undivided prosencephalon (forebrain) resulting in a small monoventricular cerebrum. The thalami and the corpora striata are undivided across the midline. Olfactory tracts and bulbs are absent as is the corpus callosum, although a few commissural fibres may cross the midline (1). In semilobar holoprosencephaly , rudimentary cerebral lobes are present, and although the interhemispheric fissure is not complete, it may be present posteriorly. The olfactory tracts and bulbs are absent or hypoplastic. The corpus callosum is not a distinct bundle but some commissural fibres may cross the midline. …