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Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male

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Summary

Prenatal diagnosis in a fetus with holoprosencephaly showed a 45,X karyotype and a suspected 18p abnormality. At birth, the fetus presented with normal male genitalia. Y chromatin was not cytogenetically detectable by Q-, G-, or G11-banding. Mosaicism for a cell line containing a Y chromosome was not observed in amniocytes, lymphocytes, or skin fibroblasts. Southern blot analysis for 11 different Y-DNA loci demonstrated the presence in the patient's genome of sequences derived from the short arm, centromeric region, and proximal long arm of the Y chromosome (intervals 1–5). The distal long arm of the Y (intervals 6 and 7) was absent. In situ hybridization with the Y-derived probe pDP105 showed silver grains over the short arm of the del(18) chromosome, suggesting a Y/18 translocation with loss of 18p and distal Yq material.

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References

  • Andersson M, Page DC, Pettay D, Subrt I, Turleau C, Grouchy J de, Chapelle A de la (1988) Y; autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq11. Hum Genet 79:2–7

    Google Scholar 

  • Ardouin M, Lanchou G, Paivre J, Garnier J-P (1968) Un cas de cyclopie dans une fratrie présentant en outre plusieurs malformations médianes de la face. Rev Oto-neuro-ophthal 11:259–270

    Google Scholar 

  • Barr M Jr, Hanson JW, Currey K, Sharp S, Toriello H, Schmickel RD, Wilson GN (1983) Holoprosencephaly in infants of diabetic mothers. J Pediatr 102:565–568

    Google Scholar 

  • Begleiter ML, Harris DJ (1980) Holoprosencephaly and endocrine dysgenesis in brothers. Am J Med Genet 7:315–318

    Google Scholar 

  • Benke PJ, Cohen MM Jr (1983) Recurrence of holoprosencephaly in families with a positive history. Clin Genet 24:324–328

    Google Scholar 

  • Berry SA, Pierpont ME, Gorlin RJ (1984) Single central incisor in familial holoprosencephaly. J Pediatr 104:877–880

    Google Scholar 

  • Bishop C, Guellaën G, Geldwerth D, Fellous M, Weissenbach J (1984) Extensive sequence homologies between Y and other human chromosomes. J Mol Biol 173:403–417

    Google Scholar 

  • Buchinger G, Wettstein A, Metze H (1981) Familial chromosome translocation t(3;18)(p21;p11). J Med Genet 18:119–123

    Google Scholar 

  • Byrne PJ, Silver MM, Gilbert JM, Cadera W, Tanswell AK (1987) Cyclopia and congenital cytomegalovirus infection. Am J Med Genet 28:61–65

    Google Scholar 

  • Cantú J-M, Fragosa R, García-Cruz D, Sánchez-Corona J (1978) Dominant inheritance of holoprosencephaly. Birth Defects 14 (6B):215–220

    Google Scholar 

  • Cohen MM Jr, Gorlin RJ (1969) Genetic consideration in a sibship of cyclopia and clefts. Birth Defects 5 (2):113–118

    Google Scholar 

  • Cohen MM Jr, Jirásek JE, Guzman RT, Gorlin RJ, Peterson MQ (1971) Holoprosencephaly and facial dysmorphia: nosology, etiology and pathogenesis. Birth Defects 7 (7):125–135

    Google Scholar 

  • Conley ME, Beckwith JB, Mancer JFK, Tenckhoff L (1979) The spectrum of the DiGeorge syndrome. J Pediatr 94:883–890

    Google Scholar 

  • Dallaire L, Fraser FC, Wiglesworth FW (1971) Familial holoprosencephaly. Birth Defects 7 (7):136–142

    Google Scholar 

  • Dekaban A (1959) Arhinencephaly in an infant born to a diabetic mother. J Neuropathol Exp Neurol 18:620–626

    Google Scholar 

  • DeMeyer W, Zeman W, Palmer CG (1963) Familial alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate. Neurology 13:913–918

    Google Scholar 

  • Disteche CM, Brown L, Saal H, Friedman C, Thuline HC, Hoar DI, Pagon RA, Page DC (1986) Molecular detection of a translocation (Y;15) in 45,X male. Hum Genet 74:372–377

    Google Scholar 

  • Dominok GW, Kirchmair H (1961) Familiäre Häufung von Fehlbildungen der Arhinencephaliegruppe. Z Kinderbeilkd 85:19–30

    Google Scholar 

  • Falk RE, Frohlich GS, Crandall BF (1982) Familial holoprosencephaly: possible X-linkage with variable expression. Am J Hum Genet [Suppl] 34:87A

    Google Scholar 

  • Gal A, Weber B, Neri G, Serra A, Müller U, Schempp W, Page DC (1987) A 45,X male with Y-specific DNA translocated onto chromosome 15. Am J Hum Genet 40:477–488

    Google Scholar 

  • Geldwerth D, Bishop C, Guellaën G, Koenig M, Vergnaud G, Mandel J-L, Weissenbach J (1985) Extensive DNA homologies between the human Y and the long arm of the X chromosome. EMBO J 4:1739–1743

    Google Scholar 

  • Gilbert EF, Opitz JM (1976) The pathology of some malformations and hereditary diseases of the respiratory tract. Birth Defects 12 (6):239–270

    Google Scholar 

  • Grebe H (1954) Familienbefunde bei letalen Anomalien der Körperform. Acta Genet Med Gemellol (Roma) 3:93–111

    Google Scholar 

  • Grouchy J de, Turleau C (1984) Monosomy or 18p- syndrome. In: Grouchy J de, Turleau C (eds) Clinical atlas of human chromosomes. Wiley, New York, pp 308–313

    Google Scholar 

  • Guellaën G, Casanova M, Bishop C, Geldwerth D, André G, Fellous M, Weissenbach J (1984) Human XX males with single-copy DNA fragments. Nature 307:172–173

    Google Scholar 

  • Hattori H, Okuno T, Momoi T, Kataoka K, Mikawa H, Shiota K (1987) Single central maxillary incisor and holoprosencephaly. Am J Med Genet 28:483–487

    Google Scholar 

  • Hintz RL, Menking M, Sotos JF (1968) Familial holoprosencephaly with endocrine dysgenesis. J Pediatr 72:81–87

    Google Scholar 

  • Hook EB (1977) Exclusion of chromosomal mosaicism: tables of 90%, 95%, and 99% confidence limits and comments on use. Am J Hum Genet 29:94–97

    Google Scholar 

  • Hsia YE, Bratu M, Herbordt A (1971) Genetics of the Meckel syndrome (dysencephalia splanchnocystica). Pediatrics 48:237–247

    Google Scholar 

  • ISCN (1985) An international system for human cytogenetic nomenclature. In: Harnden DG, Klinger HP (eds) Published in collaboration with Cytogenet Cell Genet. Karger Basel

    Google Scholar 

  • James E, Leeuwen G van (1970) Familial cebocephaly. Clin Pediatr 9:491–493

    Google Scholar 

  • Khan M, Rozdilsky B, Gerrard JW (1970) Familial holoprosencephaly. Dev Med Child Neurol 12:71–76

    Google Scholar 

  • Klopstock A (1921) Familiäres Vorkommen von Cyklopie und Arrhinencephalie. Monatsschr Geburtshilfe Gynäkol 56:59–71

    Google Scholar 

  • Liberfarb RM, Breg WR, Atkins L, Holmes LB (1979) Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to partial 1q duplication and possible 18p deletion: a study of four individuals in two families. Am J Med Genet 4:27–37

    Google Scholar 

  • Lowry RB (1974) Holoprosencephaly. Am J Dis Child 128:887

    Google Scholar 

  • Magenis ER, Casanova M, Fellous M, Olson S, Sheehy R (1987) Further cytologic evidence for Xp-Yp translocation in XX males using in situ hybridization with Y-derived probe. Hum Genet 75:228–233

    Google Scholar 

  • Maserati E, Waibel F, Weber B, Fraccaro M, Gal A, Pasquali F, Schempp W, Scherer G, Vaccaro R, Weissenbach J, Wolf U (1986) A 45,X male with a Yp/18 translocation. Hum Genet 74:126–132

    Google Scholar 

  • Münke M, Lindgren V, Martinville B de, Francke U (1984) Comparative analysis of mouse-human hybrids with rearranged chromosomes 1 by in situ hybridization and Southern blotting: high-resolution mapping of NRAS, NGFB, and AMY on human chromosome 1. Somatic Cell Mol Genet 10:589–599

    Google Scholar 

  • Münke M, Martinville B de, Lieber E, Francke U (1985) Minute chromosomes replacing the Y chromosome carry Y-specific sequences by restriction fragment analysis and in situ hybridization. Am J Med Genet 22:361–374

    Google Scholar 

  • Münke M, Emanuel BS, Zackai EH (1988) Holoprosencephaly: association with interstitial deletion of 2p and review of the cytogenetic literature. Am J Med Genet 30:929–938

    Google Scholar 

  • Nivelon-Chevallier A, Nivelon JL (1975) Forme familiale d'holoprosencephalie. J Génét Hum 23:215–223

    Google Scholar 

  • Page DC (1986) Sex reversal: deletion mapping the male-determining function of the human Y chromosome. Cold Spring Harbor Symp Quant Biol 51:229–235

    Google Scholar 

  • Page DC, Harper ME, Love J, Botstein D (1984) Occurrence of a transposition from the X-chromosome long arm to the Y-chromosome short arm during human evolution. Nature 311:119–123

    Google Scholar 

  • Page DC, Mosher R, Simpson EM, Fisher EMC, Mardon G, Pollack J, McGillivray B, Chapelle A de la, Brown LG (1987) The sex-determining region of the human Y chromosome encodes a finger protein. Cell 51:1091–1104

    Google Scholar 

  • Patel H, Dolman CL, Byrne MA (1972) Holoprosencephaly with median cleft lip. Am J Dis Child 124:217–221

    Google Scholar 

  • Petterson JC (1976) An anatomical study of two cases of cebocephaly. In: Bosma JF (ed) Development of the basicranium (no (NIH) 76-989). US Department of Health, Education, and Welfare, Public Health Service Bethesda, Md, pp 240–265

    Google Scholar 

  • Roach E, DeMeyer W, Conneally PM, Palmer C, Merritt AD (1975) Holoprosencephaly: birth data, genetic and demographic analyses of 30 families. Birth Defects 11 (2):294–313

    Google Scholar 

  • Toriello HV (1986) The arhinencephaly field defect. Am J Med Genet [Suppl] 2:73–76

    Google Scholar 

  • Váradi V, Szabó L, Papp Z (1980) Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies. J Med Genet 17:119–122

    Google Scholar 

  • Vergnaud G, Page DC, Simmler M-C, Brown L, Rouyer F, Noel B, Botstein D, Chapelle A de la, Weissenbach J (1986) A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet 38:109–124

    Google Scholar 

  • Weber B, Schempp W, Orth U, Seidel H, Gal A (1987) A Y/5 translocation in a 45,X male with cri du chat syndrome. Hum Genet 77:145–150

    Google Scholar 

  • Wolfe J, Darling SM, Erickson RP, Craig IW, Buckle VJ, Rigby PWJ, Willard HF, Goodfellow PN (1985) Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosome. J Mol Biol 182:477–485

    Google Scholar 

  • Wraith JE, Super M, Watson GH, Phillips M (1985) Velo-cardio-facial syndrome presenting as holoprosencephaly. Clin Genet 27: 408–410

    Google Scholar 

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Münke, M., Page, D.C., Brown, L.G. et al. Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male. Hum Genet 80, 219–223 (1988). https://doi.org/10.1007/BF01790089

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  • DOI: https://doi.org/10.1007/BF01790089

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