Prenatal diagnosis of inherited satellited non‐acrocentric chromosomes

We report on the prenatal diagnosis of two sib female fetuses with a satellited short arm of chromosome 4 and a male fetus with a satellited long arm of chromosome X. The first two fetuses had a cryptic balanced translocation (4;15)(p16;p11.1) inherited from a mother carrying a satellited 4p and having an affected child with the Wolf–Hirschhorn syndrome. The third fetus had a satellited Xq, with a deletion of subtelomeric region of Xq. The mother was subsequently found to have the same satellited Xq but without the presence of a reciprocal translocation. She decided to continue the pregnancy. The proband with a satellited Xq manifested developmental delay, mental retardation, hypertelorism, ptosis of one eye, low‐set ears, and hearing disturbance at age 6 months. Fluorescence in situ hybridization (FISH) with a specific telomeric or subtelomeric probe, and genetic marker analyses were used to confirm the diagnosis. Pregnant women with satellited non‐acrocentric chromosomes are at risk for carrying fetuses with chromosome abnormalities. If the X chromosome is involved, the fetuses can be affected with X‐linked recessive disorders including mental retardation. Detailed genetic counselling, cytogenetic studies, FISH and genetic marker analyses are useful in prenatal detection of abnormal chromosome rearrangements. Copyright © 2000 John Wiley & Sons, Ltd.

[1]  R. Stevenson,et al.  XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28. , 1999, American journal of medical genetics.

[2]  R. Stevenson,et al.  X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28. , 1999, American journal of medical genetics.

[3]  G. Schwanitz,et al.  Characterisation, phenotypic manifestations and X‐inactivation pattern in 14 patients with X‐autosome translocations , 1999, Clinical genetics.

[4]  H. Lubs,et al.  XLMR genes: update 1998. , 1999, American journal of medical genetics.

[5]  A. Munnich,et al.  Prenatal diagnosis of a satellited non‐acrocentric chromosome derived from a maternal translocation (10;13)(p13;p12) and review of literature , 1999, Prenatal diagnosis.

[6]  T. Gilliam,et al.  Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. , 1997, American journal of human genetics.

[7]  R. Stevenson,et al.  A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28. , 1997, Journal of medical genetics.

[8]  P. Billuart,et al.  A gene for dominant nonspecific X-linked mental retardation is located in Xq28. , 1997, American journal of human genetics.

[9]  E. Zackai,et al.  A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. , 1997, Human molecular genetics.

[10]  D. Ledbetter,et al.  A complete set of human telomeric probes and their clinical application , 1996, Nature Genetics.

[11]  E. Mariman,et al.  A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28. , 1996, American journal of medical genetics.

[12]  A. Meindl,et al.  Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33). , 1996, American journal of medical genetics.

[13]  T. Berney,et al.  PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28. , 1996, American journal of human genetics.

[14]  J. Tolmie,et al.  Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study. , 1996, Journal of medical genetics.

[15]  P. Arn,et al.  Reproductive outcome in 3 families with a satellited chromosome 4 with review of the literature. , 1995, American journal of medical genetics.

[16]  C. Hsieh,et al.  Satellited 4q identified in amniotic fluid cells. , 1995, American journal of medical genetics.

[17]  A. Hajianpour,et al.  Genotype-phenotype correlation in satellited 1p chromosome: Importance of fluorescence in situ hybridization (FISH) applications , 1994 .

[18]  W. Brown,et al.  The sequence organization of the long arm pseudoautosomal region of the human sex chromosomes. , 1994, Human molecular genetics.

[19]  A. Lamb,et al.  A molecular deletion of distal chromosome 4p in two families with a satellited chromosome 4 lacking the Wolf-Hirschhorn syndrome phenotype. , 1992, American journal of human genetics.

[20]  L. Peltonen,et al.  Terminal deletion of chromosome 4p (4p16.3) shows a breakpoint between loci linked to Huntington disease. , 1992, American journal of medical genetics.

[21]  J. Burn,et al.  A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation. , 1992, Journal of medical genetics.

[22]  D. Ledbetter,et al.  Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. , 1991, American journal of human genetics.

[23]  J. Mulley,et al.  Localisation of the MRX3 gene for non-specific X linked mental retardation. , 1991, Journal of medical genetics.

[24]  B. Migeon,et al.  Translocation of the nucleolus organizer region to the human X chromosome. , 1986, American journal of human genetics.

[25]  R. Sanger,et al.  Xg and sex-chromosome abnormalities. , 1969, British medical bulletin.