Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5

Summary A male infant with partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5 (46,XY,rec(5), dup q,inv(5)(p15.1q35.1)pat) is reported together with the oral findings. The phenotype was chiefly the cri-du-chat syndrome. Severe retardation of mental and motor development, microencephaly, cardiac malformation, crying and facial appearance unique to the cri-du-chat syndrome were observed. Perioral and intraoral findings included thin upper lip, downturning corners of mouth, micrognathia, shallow palate, and cleft of soft palate. Anterior deciduous teeth were small and canine deciduous teeth were conic. The row of deciduous teeth showed a flat arch-like shape that was very wide but short in length. No abnormality was noted in the number of deciduous teeth or the timing of eruption.     

Trisomy 2q and monosomy 11q in the same individual: the importance of considering the deleted segment

A female infant with multiple dysmorphic features and developmental delay was found to have partial duplication of the long arm of chromosome 2 and partial deletion of the long arm of chromosome 11 derived from a paternal balanced translocation, 46,XY,t(2;11)(q33:q25). Clinically, the infant had features of both 2q+ and 11q- syndromes. The importance of considering both the duplicated and deleted segment in unbalanced products resulting from familial translocations is emphasized.     

Familial partial monosomy 5p and trisomy 5q; three cases due to paternal pericentric inversion 5 (p151q333)

A family is described in which the mother's 9 pregnancies ended in the birth of 2 healthy girls, 4 spontaneous abortions and 3 infants with multiple congenital malformations as bird-headed appearance, pre- and postnatal growth deficiency, microcephaly, micrognathia with small mouth and cat-like cry. Two of the three affected sibs had complex cardiac malformations incompatible with life; the third had a bicuspid aortic valve. Chromosomal investigation revealed an abnormal karyotype: 46,XX,rec(5),dupq,inv(5)(p151q333)pat, leading to a partial monosomy 5p and partial trisomy 5q. A large pericentric inversion of chromosome 5 was found in the father: 46,XY,inv(5)(p151q333) as well as in the firstborn healthy female sib. The clinical features partly fit the partial monosomy 5p as well as the partial trisomy 5q syndrome.     

一4q部分三体10q部分单体患儿的分子细胞遗传分析

目的 确定一生长迟缓、智力低下患儿的核型,分析其染色体变异与表型的相关性,同时探讨微阵列比较基因组杂交(array-based comparative genomic hybridization,array-CGH)在临床分子细胞遗传诊断中的应用及其优越性.方法 应用G显带染色体分析、array-CGH、荧光原位杂交(fluorescence in situ hybridization,FISH)和实时定量PCR(real-time quantitative PCR,RQ-PCR)对患儿及其亲属进行核型分析.结果 G显带染色体分析显示患儿存在1条来源于父亲的10号衍生染色体der(10)t(4;10)(q25;q26),其父亲和祖母均是t(4;10)(q25;q26)平衡易位携带者.Array-CGH显示患儿存在4q26-q35.2三体,并将断裂点定位于4q26,此外,还发现患儿10号染色体存在一约0.54 Mb的微缺失del(10)(q26.3).FISH和RQ-PCR证实父亲和祖母也存在del(10)(q26.3).结论 del(10)(q26.3)并不导致表型异常,患儿的异常表型可归因于4q26-q35.2三体.与传统的细胞遗传分析方法 相比,array-CGH具有高分辨率和高准确性等优点.     

Partial trisomy 13 plus partial trisomy 4q due to unusual segregation of translocation chromosomes

The cytogenetic analysis of a 7-month-old retarded girl with clinical signs compatible with partial trisomy 13 revealed a translocation t(4;13)(q33;ql4) and an additional derivative chromosome 13. This karyotype probably resulted from 3:1 segregation during meiosis of the patient's mother.     

Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: phenotypic and genotypic findings

Constitutional partial trisomy 11q in man mostly occurs in combination with partial trisomy 22 due to a balanced parental translocation t(11;22). Occasionally a chromosome other than 22 is involved in the parental translocation with chromosome 11, resulting in partial monosomy for the other participating chromosome. We report of a patient with partial trisomy 11q and partial monosomy 10p [46,XX,der(10)t(10;11)(p15;q22)] due to a paternal balanced translocation [46,XY,t(10;11)(p15;q22)]. Array CGH showed heterozygosity for a deletion of ～3.46 Mb at 10p15.3p15.2 and gain of ～32.21 Mb at 11q22.2q25. The patient, a 19‐year‐old woman, has a multiple congenital anomaly syndrome with severe developmental and growth delay, muscular hypotonia, iris coloboma, abnormal external ears, widely spaced nipples, atrial septum defect, clubfoot, and arthrogryposis multiplex congenita. Despite multiple health problems and numerous hospitalizations due to massive seizures, pulmonary insufficiency and recurrent infections the patient reached adulthood. The clinical features in our patient are compared to other cases reported in the literature of either partial monosomy 10p or partial trisomy 11q. To the best of our knowledge, this is the first report of the combination of partial trisomy 11q and partial monosomy 10p. Comparing the molecular karyotype and the phenotype of our patient to other patients, the clinical features of our patient are more likely due to partial trisomy 11q than to partial monosomy 10p. © 2011 Wiley Periodicals, Inc.     

Two sibs with partial trisomy 2q

We report on two sibs with facial anomalies and developmental delay. Partial trisomy 2q was detected only after parental chromosome studies showed the father to carry a balanced interchromosomal insertion of 2 (q24.3–q32.1) into 5q. Am. J. Med. Genet. 70:166–170, 1997. © 1997 Wiley-Liss, Inc.     

Partial trisomy 13q identified by sequential fluorescence in situ hybridization

We report on a 19-month-old boy with partial trisomy 13q resulting from a probable balanced translocation involving chromosomes 1 and 13. The infant presented with omphalocele, malrotation, microcephaly with overriding skull bones, micrognathia, apparently low-set ears, rocker-bottom feet, and congenital heart disease, findings suggestive of trisomy 13. Karyotypic studies from peripheral blood lymphocytes documented an unbalanced karyotype 46,XY,−1, +der(1). The mother's chromosomes were normal, and the father was not available. Conventional cytogenetic techniques were unable to identify the extra material on the terminal 1q. Using fluorescence in situ hybridization (FISH) on the GTL-banded metaphases, the extra material on 1q was identified as the terminal long arm of 13, thus resulting in partial trisomy 13 (q32–qter). © 1995 Wiley-Liss, Inc.     

Case of partial trisomy 9p and partial trisomy 14q resulting from a maternal translocation: Overlapping manifestations of characteristic phenotypes

We report on a female infant with partial trisomy 9p (pter→p13) and partial trisomy 14q (pter→q22) resulting from a 3:1 segregation of a maternal reciprocal translocation (9;14)(p13;q22). Both trisomy 9p and partial trisomy 14q have been described as recognized phenotypes with characteristic patterns of anomalies. This patient appears to be the first reported with a partial duplication of both 9p and 14q resulting in an overlapping phenotype including minor facial anomalies, cleft palate, and hand-foot anomalies. However, the facial findings were more pronounced than commonly observed in cases with only one or the other duplicated chromosome regions, resulting in a distinctive appearance. Am. J. Med. Genet. 84:132–136, 1999. © 1999 Wiley-Liss, Inc.     

一4q部分三体10q部分单体患儿的分子细胞遗传分析

目的 确定一生长迟缓、智力低下患儿的核型,分析其染色体变异与表型的相关性,同时探讨微阵列比较基因组杂交(array-based comparative genomic hybridization,array-CGH)在临床分子细胞遗传诊断中的应用及其优越性.方法 应用G显带染色体分析、array-CGH、荧光原位杂交(fluorescence in situ hybridization,FISH)和实时定量PCR(real-time quantitative PCR,RQ-PCR)对患儿及其亲属进行核型分析.结果 G显带染色体分析显示患儿存在1条来源于父亲的10号衍生染色体der(10)t(4;10)(q25;q26),其父亲和祖母均是t(4;10)(q25;q26)平衡易位携带者.Array-CGH显示患儿存在4q26-q35.2三体,并将断裂点定位于4q26,此外,还发现患儿10号染色体存在一约0.54 Mb的微缺失del(10)(q26.3).FISH和RQ-PCR证实父亲和祖母也存在del(10)(q26.3).结论 del(10)(q26.3)并不导致表型异常,患儿的异常表型可归因于4q26-q35.2三体.与传统的细胞遗传分析方法 相比,array-CGH具有高分辨率和高准确性等优点.     

一4q部分三体10q部分单体患儿的分子细胞遗传分析

目的 确定一生长迟缓、智力低下患儿的核型,分析其染色体变异与表型的相关性,同时探讨微阵列比较基因组杂交(array-based comparative genomic hybridization,array-CGH)在临床分子细胞遗传诊断中的应用及其优越性.方法 应用G显带染色体分析、array-CGH、荧光原位杂交(fluorescence in situ hybridization,FISH)和实时定量PCR(real-time quantitative PCR,RQ-PCR)对患儿及其亲属进行核型分析.结果 G显带染色体分析显示患儿存在1条来源于父亲的10号衍生染色体der(10)t(4;10)(q25;q26),其父亲和祖母均是t(4;10)(q25;q26)平衡易位携带者.Array-CGH显示患儿存在4q26-q35.2三体,并将断裂点定位于4q26,此外,还发现患儿10号染色体存在一约0.54 Mb的微缺失del(10)(q26.3).FISH和RQ-PCR证实父亲和祖母也存在del(10)(q26.3).结论 del(10)(q26.3)并不导致表型异常,患儿的异常表型可归因于4q26-q35.2三体.与传统的细胞遗传分析方法 相比,array-CGH具有高分辨率和高准确性等优点.     

Partial trisomy 2q

An infant with unusual facies and anomalies of brain, heart, and kidney was found to have a simple duplication of the distal long arm of chromosome 2. The clinical features of this case refine the phenotypic spectrum of partial trisomy 2q; prior cases had more complicated chromosomal rearrangements.     

Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion,inv(18)(p11.2q21.3)

A 7-year-old boy with dysmorphic features was found to have a recombinant chromosome 18, rec(18), resulting from meiotic recombination of a maternal pericentric inversion, inv(18) (p11.2q21.3), as defined by high-resolution banding. He was trisomic for the long arm (q21.3-qter) and monosomic for the short arm (p11.2-pter) of chromosome 18. His clinical features were compared with those in other rec(18) cases, and also those in monosomy 18p, trisomy 18qter and full trisomy 18 syndromes. The risk of recombinant formation for inv(18) carriers was also discussed.     

Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41‐qter: Further delineation of partial trisomy 1q syndrome

We report the clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q. The first patient is a currently 11‐year‐old female proposita with a de novo unbalanced translocation 46,XX,der(8)(8qter‐8p23.3::1q41‐1qter), leading to a partial trisomy 1q41‐qter and a partial monosomy for 8p23.3‐pter. The most prominent clinical features of the girl are a triangular face, almond‐shaped eyes, low‐set ears, short stature with relatively long legs, and mild psychomotor retardation. To our knowledge, the cytogenetic aberration in this girl is the most proximal partial trisomy 1q leading to a mild phenotype. Recently, we identified a second patient with a similar partial trisomy 1q combined with a cri du chat syndrome caused by a de novo unbalanced translocation 46,XX,der(5)(5qter‐5p13.1::1q41‐1qter). Comparison of the phenotype of the two girls as well as with already published trisomy 1q cases was performed, and fluorescence in situ hybridization probes from selected YACs were used to delineate the extent of the partial trisomy in more detail. © 2001 Wiley‐Liss, Inc.     

Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: Case report and review of the literature on partial trisomy 17qter

Partial trisomy 17q22-qter is a rare but well-recognized clinical entity. We present a case of partial trisomy for the long arm of chromosome 17, which was detected in a female infant with severe psychomotor and somatic retardation, Stargardt disease, short limbs, and numerous minor anomalies. Differential chromosomal staining demonstrated an excess of genetic material on the long arm of the late replicating X chromosome. FISH and DNA polymorphism analysis showed that the extra material belonged to the distal part of the long arm of chromosome 17 and that there was a partial monosomy of the distal part of the long arm of the derivative X chromosome. The breakpoint regions of this translocation were identified by molecular analysis using polymorphic microsatellite markers on human chromosomes 17 and X. The origin of the abnormal X chromosome was found to be paternal, whereas the origin of the duplicated part of chromosome 17 was maternal. The unbalanced translocation between the paternal X and the maternal chromosome 17 is, therefore, suggested to be due to a postzygotic error. Am. J. Med. Genet. 70:87–94, 1997. © 1997 Wiley-Liss, Inc.     

Partial trisomy 12q: clinical and cytogenetic observations

High resolution chromosome banding showed a male infant with profound mental retardation, hypertonia and multiple congenital anomalies to have the karyotype 46,XY,-der (2),t(2;12)(q37.3;q24.13)pat. Most of the clinical findings were compatible with those of the previously described cases with partial trisomy 12q. Some of the clinical features seem to disappear with increasing age.     

Case report: partial trisomy 20q (20q13.13→qter)

Presented here is an infant displaying trisomy of the region 20ql3.13→qter. This case shares phenotypic features with previously reported trisomy 20q individuals.     

Partial trisomy 1q with growth hormone deficiency and normal intelligence

We present two sibs with partial trisomy 1 (q31.1–q32.1) due to a familial insertion. Patient 1 is a girl who presented at age 9 months with minor anomalies, short stature, and normal psychomotor development. Karyotype was 46,XX,der(4)ins(4;1) (p14;q31.1q32.1)pat. The father had a balanced inverted insertion of 1q into 4p, with karyotype 46,XY,ins(4;1)(p14;q31.1q32.1). At age 5 years, patient 1 was found to have short stature with documented growth hormone deficiency and ectopic pituitary. Her growth velocity responded well to treatment with growth hormone. Cognitive testing at 5 9/12 years showed normal intelligence with an IQ of 90. Patient 2, the brother of patient 1, presented with intrauterine growth retardation. He has the same chromosomal insertion as his sister, with partial trisomy 1q. We suggest that there is a recognizable phenotype of trisomy 1(q31.1-q32.1) which includes prenatal and postnatal growth retardation, narrow palpebral fissures, microphthalmia, microstomia, pituitary abnormalities, and normal intelligence in some individuals. Am. J. Med. Genet. 77:257–260, 1998. © 1998 Wiley-Liss, Inc.