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First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter --> q22.1::q22.1 --> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndrome.
Am J Med Genet A 2004; 127A(1):58-64AJ

Abstract

Isopseudodicentric chromosome 18 is very rare and results in a combination of partial trisomy and partial monosomy of chromosome 18. We report here a hypotrophic newborn with a lateral cleft lip and palate and multiple craniofacial dysmorphisms, a combined heart defect, unilateral hypoplasia of the kidney, bilateral aplasia of thumbs, and generalized contractures. Cytogenetic analysis revealed an isopseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter --> q22.1::q22.1 --> pter)). The isopseudodicentric chromosome 18 was observed in 100% of blood lymphocytes and umbilical cord fibroblasts, thus indicating a non-mosaic finding of the isopseudodicentric chromosome in the child. An elongated derivative chromosome 18 had also been found prenatally in amniotic cells. In contrast, a terminal deletion (18q-) was detected in placental cell cultures. The breakpoint was mapped to a 0.9 Mb region on 18q22.1 (located 64.8-65.7 Mb from the telomere of the p-arm) by a novel quantitative PCR approach with SYBR green detection. The results indicate an identical breakpoint of the isopseudodicentric chromosome 18 in the child and the 18q- chromosome in the placenta. To our knowledge this is the first report that a fetus carrying an isopseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter --> q22.1::q22.1 --> pter)) in non-mosaic form can be viable, but is associated with severe congenital malformations of the child.

Authors+Show Affiliations

Institute of Human Genetics, University of Göttingen, Heinrich-Duker-Weg 12, D-37073 Göttingen, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15103719

Citation

Meins, M, et al. "First Non-mosaic Case of Isopseudodicentric Chromosome 18 (psu Idic(18)(pter --> Q22.1::q22.1 --> Pter) Is Associated With Multiple Congenital Anomalies Reminiscent of Trisomy 18 and 18q- Syndrome." American Journal of Medical Genetics. Part A, vol. 127A, no. 1, 2004, pp. 58-64.
Meins M, Böhm D, Grossmann A, et al. First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter --> q22.1::q22.1 --> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndrome. Am J Med Genet A. 2004;127A(1):58-64.
Meins, M., Böhm, D., Grossmann, A., Herting, E., Fleckenstein, B., Fauth, C., ... Burfeind, P. (2004). First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter --> q22.1::q22.1 --> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndrome. American Journal of Medical Genetics. Part A, 127A(1), pp. 58-64.
Meins M, et al. First Non-mosaic Case of Isopseudodicentric Chromosome 18 (psu Idic(18)(pter --> Q22.1::q22.1 --> Pter) Is Associated With Multiple Congenital Anomalies Reminiscent of Trisomy 18 and 18q- Syndrome. Am J Med Genet A. 2004 May 15;127A(1):58-64. PubMed PMID: 15103719.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter --> q22.1::q22.1 --> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndrome. AU - Meins,M, AU - Böhm,D, AU - Grossmann,A, AU - Herting,E, AU - Fleckenstein,B, AU - Fauth,C, AU - Speicher,M R, AU - Schindler,R, AU - Zoll,B, AU - Bartels,I, AU - Burfeind,Peter, PY - 2004/4/23/pubmed PY - 2004/11/13/medline PY - 2004/4/23/entrez SP - 58 EP - 64 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 127A IS - 1 N2 - Isopseudodicentric chromosome 18 is very rare and results in a combination of partial trisomy and partial monosomy of chromosome 18. We report here a hypotrophic newborn with a lateral cleft lip and palate and multiple craniofacial dysmorphisms, a combined heart defect, unilateral hypoplasia of the kidney, bilateral aplasia of thumbs, and generalized contractures. Cytogenetic analysis revealed an isopseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter --> q22.1::q22.1 --> pter)). The isopseudodicentric chromosome 18 was observed in 100% of blood lymphocytes and umbilical cord fibroblasts, thus indicating a non-mosaic finding of the isopseudodicentric chromosome in the child. An elongated derivative chromosome 18 had also been found prenatally in amniotic cells. In contrast, a terminal deletion (18q-) was detected in placental cell cultures. The breakpoint was mapped to a 0.9 Mb region on 18q22.1 (located 64.8-65.7 Mb from the telomere of the p-arm) by a novel quantitative PCR approach with SYBR green detection. The results indicate an identical breakpoint of the isopseudodicentric chromosome 18 in the child and the 18q- chromosome in the placenta. To our knowledge this is the first report that a fetus carrying an isopseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter --> q22.1::q22.1 --> pter)) in non-mosaic form can be viable, but is associated with severe congenital malformations of the child. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/15103719/First_non_mosaic_case_of_isopseudodicentric_chromosome_18__psu_idic_18__pter___>_q22_1::q22_1___>_pter__is_associated_with_multiple_congenital_anomalies_reminiscent_of_trisomy_18_and_18q__syndrome_ L2 - https://doi.org/10.1002/ajmg.a.20644 DB - PRIME DP - Unbound Medicine ER -