Appendix
References of cases with UPD and information on parental age either in the paper or by
personal communication
Maternal heterodisomy in cases with a normal karyotype:
Abu-Amero SN, Ali Z, Abu-Amero KK, Stanier P, Moore GE. An analysis of common
isodisomic regions in five mUPD 16 probands. J Med Genet 1999;36:204-207.
Balmer D, Baumer A, Röthlisberger B, Schinzel A. Severe intra-uterine growth retardation in
a patient with maternal uniparental disomy 22 and a 22-trisomic placenta. Prenat Diagn
1999;19:1061-1062.
Bernard LE, Penaherrera MS, Van Allen MI, Wang MS, Yong S-L, Gareis F, Langlois S,
Robinson WP. Clinical and molecular findings in two patients with Russell Silver syndrome
and UPD7. Am J Med Genet 1999;87:230-236.
Bilimoria KY, Rothenberg JM. Prenatal diagnosis of a trisomy 7/maternal uniparental
heterodisomy 7 mosaic fetus. Am J Med Genet 2003;118:60-3.
Blayau M. Odent S, Dubourg C, Dabadie A, David V. Alpha1-antitrypsin deficiency due to
maternal
uniparental
disomy
for
chromosome
14.
Europ
J
Hum
Genet
2002;10:Suppl:1:P0974.
Chan Y, Silverman N, Jackson L, Wapner R, Wallerstein R. Maternal uniparental disomy of
chromosome 16 and body stalk anomaly. Am J Med Genet 2000;94:284-286.
Chudoba I, Franke Y, Senger G, Sauerbrei G, Demuth S, Beensen V, Neumann A, Hansmann
I, Claussen U. Maternal UPD 20 in a hyperactive child with severe growth retardation. Eur J
Hum Genet 1999;7:533-540.
De Pater JM, Schuring-Blom GH, van den Bogaard R, van der Sijs-Bos CJM, Christiaens
GCML, Stoutenbeek Ph, Leschot NJ. Maternal uniparental disomy for chromosome 22 in a
child with generalized mosaicism for trisomy 22. Prenat Diagn 1997;17:81-86.
Eggermann T, Mergenthaler S, Eggermann K, Albers A, Fusch C, Ranke MB, Wollmann HA.
Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal
upd (20) in a cohort of growth-retarded patients. J Med Genet 2001;38:86-89.
Eggermann T, Wollmann HA, Kuner R, Eggermann K, Enders H, Kaiser P, Ranke MB.
Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of
uniparental disomy. Hum Genet 1997;100:415-419.
Fokstuen S, Ginsburg C, Zachmann M, Schinzel A. Maternal uniparental disomy 14 as a
cause of intrauterine growth retardation and early onset of puberty. J Pediatr 1999;134:689695.
Fritz B, Aslan M, Kalscheuer V, Ramsing M, Saar K, Fuchs B, Rehder H. Low incidence of
UPD in spontaneous abortions beyond the 5th gestational week. Eur J Hum Genet
2001;9:910-916.
Garber A, Carlson D, Schreck R, Fischel-Ghodsian N, Hsu W-T, Oetztas S, Pepkowitz S,
Graham JM. Prenatal diagnosis and dysmorphic findings in mosaic trisomy 16. Prenat Diagn
1994;14:257-268.
Genuardi M, Tozzi C, Pomponi MG, Stagni ML, Della Monica M, Scarano G, Calvieri F,
Loredana T, Neri G. Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue
distribution, and uniparental disomy studies. Europ J Hum Genet 1999;7:421-426.
Hannula K, Lipsanen-Nyman M, Kristo P, Kaitila I, Simola KO, Lenko HL, Tapanainen P,
Holmberg C, Kere J. Genetic screening for maternal uniparental disomy of chromosome 7 in
prenatal and postnatal growth retardation of unknown cause. Pediatrics 2002;109:441-448.
Hansen WF, Bernhard LE, Langlois S, Rao KW, Chescheir NC, Aylsworth AS, Smith I,
Robinson WP, Barrett IJ, Kalousek DK. Maternal uniparental disomy 2 and confined
placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias,
and oligohydramnios. Prenat Diagn 1997;17:443-50.
Harrison K, Eisenger K, Anyane-Yeboa K, Brown S. Maternal uniparental disomy of
chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture. Am J Med Genet
1995;58:147-151.
Heide E, Heide K-G, Rodewald A. Maternal uniparental disomy (UPD) for chromosome 2
discovered by exclusion of paternity. Am J Med Genet 2000;92:260-263.
Henderson DJ, Sherman LS, Loughna SC, Bennett PR, Moore GE. Early embryonic failure
associated with uniparental disomy for human chromosome 21. Hum Mol Genet 1994;3:13731376.
Hordijk R, Wierenga H, Scheffer H, Leegte B, Hofstra RMW, Stolte-Dijkstra I. Maternal
uniparental disomy for chromosome 14 in a boy with a normal karyotype. J Med Genet
1999;36:782-785.
Hsu W-T, Shchepin DA, Mao R, Berry-Kravis E, Garber AP, Fischel-Ghodsian N, Falk RE,
Carlson DE, Roeder ER, Leeth EA, Hajianpour MJ, Wang J-ChC, Rosenblum-Vos LS, Bhatt
SD, Karson EM, Hux ChH, Trunca C, Bialer MG, Linn SK, Schreck RR. Mosaic trisomy 16
ascertained through amniocentesis: evaluation of 11 new cases. Am J Med Genet
1998;80:473-480.
Jones C, Booth C, Rita D, Jazmines L, Spiro R, Mc Culloch B, Mc Caskill Ch, Shaffer LG.
Identification of a case of maternal disomy of chromosome 10 associated with confined
placental mosaicism. Prenat Diagn 1995;15:843-848.
Kalousek DK, Langlois S, Barrett I, Yam I, Wilson DR, Howard- Peebles PN, Johnson MP,
Giorgiutti E. Uniparental disomy for chromosome 16 in humans. Am J Hum Genet 1993;52:816.
Kotzot D, Balmer D, Baumer A, Chrzanowska K, Hamel BCJ, Ilyina H, Krajewska-Walasek
M, Otten BJ, Lurie IW, Otten BJ, Schoenle E, Tariverdian G, Schinzel A. Maternal
uniparental disomy 7 - Review and further delineation of the phenotype. Eur J Pediatr
2000;159:247-256.
Kuchinka BD, Barrett IJ, Moya G, Sanchez JM, Langlois S, Yong S-L, Kalousek DK,
Robinson WP. Two cases of confined placental mosaicism for chromosome 4, including one
with maternal uniparental disomy. Prenat Diagn 2001;21:36-39.
Langlois S, Yong SL, Wilson RD, Kwong LC, Kalousek DK. Prenatal and postnatal failure
associated with maternal heterodisomy for chromosome 7. J Med Genet 1995;32:871-875.
Lindor NM, Jalal SM, Thibodeau SN, Bonde D, Sauser KL, Karnes PS. Mosaic trisomy 16 in
a thriving infant; maternal heterodisomy for chromosome 16. Clin Genet 1993;44:185-189.
Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D,
Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg
R, Scherer SW. Molecular genetic studies of human chromosome 7 in Russell/Silver
syndrome. Genomics 2002;79:186-196.
O'Riordan S, Greenough A, Moore GE, Bennett P, Nicolaides KH. Case report: uniparental
disomy 16 in association with congenital heart disease. Prenat Diagn 1996;16:963-965.
Preece MA, Abu-Amero SN, Ali Z, Abu-Amero KK, Wakeling EL, Stanier P. An analysis of
the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 SilverRussell syndrome probands. J Med Genet 1999;36:457-460.
Pulkkinen L, Bullrich F, Czarnecki P, Weiss L, Uitto J. Maternal uniparental disomy of
chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz
junctional epidermolysis bullosa. Am J Hum Genet 1997;61:611-619.
Rothlisberger B, Zerova T, Kotzot D, Buzhievskaya TI, Balmer D, Schinzel A.
Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1
in a developmentally delayed child. J Med Genet 2001;38:885-8.
Salafsky IS, MacGregor SN, Claussen U, von Eggeling F. Maternal UPD 20 in an infant from
a pregnancy with mosaic trisomy 20. Prenat Diagn 2001;21:860-3.
Sanlaville D, Aubry MC, Dumez Y, Nolen MC, Amiel J, Pinson MP, Lyonnet S, Munnich A,
Vekemans M, Morichon-Delvallez N. Maternal uniparental heterodisomy of chromosome 14:
chromosomal mechanism and clinical follow up. J Med Genet 2000;37:525-528.
Schneider AS, Bischoff FZ, McCaskill Ch, Coady ML, Stopfer JE, Shaffer LG.
Comprehensive 4-year follow-up on a case of maternal heterodisomy for chromosome 16. Am
J Med Genet 1996;66:204-208.
Sirchia SM, De Andreis Ch, Pariani S, Grimoldi MG, Molinari A, Buscaglia M, Simoni G.
Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic
46,XX/47,XX,+14 karyotype. Hum Genet 1994;94:355-358.
Slater HR, Ralph A, Daniel A, Worthington S, Roberts C. A case of maternal uniparental
disomy of chromosome 9 diagnosed prenatally and the related problem of residual trisomy.
Prenat Diagn 2000;20:930-932.
Sulisalo T, Mäkitie O, Sistonen P, Ridanpää M, El-Rifai W, Ruuskanen O, de la Chapelle A,
Kaitila I. Uniparental disomy in cartilago-hair hypoplasia. Eur J Hum Genet 1997;5:35-42.
Temple IK (personal communication)
Vaughan J, Ali Z, Bower S, Bennett P, Chard P, Moore G. Human maternal uniparental
disomy for chromosome 16 and fetal development. Prenat Diagn 1994;14:751-756.
Von Eggeling F, Hoppe C, Bartz U, Starke H, Houge G, Claussen U, Ernst G, Kotzot D,
Liehr T (2002): Maternal uniparental disomy 12 in a healthy girl with a 47,XX,+der(12)(:p11>q11:)/46,XX karyotype. J Med Genet 39:519-521.
Whiteford ML, Coutts J, Al-Roomi L, Mather A, Lowther G, Cooke A, Vaughan JI, Moore
GE, Tolme JL. Uniparental isodisomy for chromosome 16 in a growth-retarded infant with.
Prenat Diagn 1995;15:579-584.
Wilkinson TA, James RS, Crolla JA, Cockwell AE, Campbell PL, Temple IK. A case of
maternal uniparental disomy of chromosome 9 in association with confined placental
mosaicism for trisomy 9. Prenat Diagn 1996;16:371-374.
Willatt IR, Davison BCC, Goudie D, Alexander J, Dyson HM, Jenks PE, Ferguson-Smith
ME. A male with trisomy 9 mosaicism and maternal uniparental disomy for chromosome 9 in
the euploid cell line. J Med Genet 1992;29:742-744.
Wolstenholme J, White I, Sturgiss S, Carter J, Plant N, Goodship JA. Maternal uniparental
heterodisomy for chromosome 2: detection through 'atypical' maternal AFP/hCG levels, with
an update on a previous case. Prenat Diagn 2001;21:813-7.
Woo V, Bridge PJ, Bamforth JS. Maternal uniparental heterodisomy for chromosome 16: case
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Maternal heterodisomy associated with a chromosome aberration
Berend MJW, Hordijk R, Oosterwijk JC, Halley DJJ, Sorgedrager N. Two cases of maternal
uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype. Am J
Med Genet 1999;84:76-79.
Cave H (personal communication).
Dawson AJ, Mears AJ, Chudley AE, Bech-Hansen T, McDermid H. Der(22)t(11;22) resulting
from paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of
chromosome 22. J Med Genet 1996;33:952-956.
Dupont JM, Cuisset L, Cartigny M, Le Tessier D, Vasseur C, Rabineau D, Jeanpierre M.
Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a
Silver-Russell patient. Am J Med Genet 2002;111:405-8.
Healey S, Powell F, Battersby M, Chenevix-Trench G, McGill J. Distinct phenotype in
maternal uniparental disomy of chromosome 14. Am J Med Genet 1994;51:147-149.
Kayashima T, Katahira M, Harada N, Miwa N, Ohta T, Yoshiura K, Matsumoto N, Nakane
Y, Nakamura Y, Kajii T, Niikawa N, Kishino T. Maternal isodisomy for 14q21-q24 in a man
with diabetes mellitus. Am J Med Genet 2002;111:38-42.
Miyoshi O, Hayashi S, Fujimoto M, Tomita H, Sohda M, Niikawa N. Maternal uniparental
disomy for chromosome 14 in a boy with intrauterine growth retardation. J Hum Genet
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Piantanida M, Dellavecchia C, Floridia G, Giglio S, Hoeller H, Dordi B, Danesino C,
Schinzel A, Zuffardi O. Ataxic gait and mental retardation with absence of the paternal
chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes ? Hum
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Rogan PK, Sabol DW, Punnett HH. Maternal uniparental disomy of chromosome 21 in a
normal child. Am J Med Genet 1999;83:69-71.
Schinzel A, Kotzot D, Brecevic L, Robinson WP, Dutly F, Dauwerse H, Binkert F, Ausserer
B. Trisomy first, translocation second, uniparental disomy and partial trisomy third: A new
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Wang J-ChC, Mamunes P, Kou S-Y, Schmidt J, Mao R, Hsu WT. Centromeric DNA break in
a 10;16 reciprocal translocation associated with trisomy 16 confined placental mosaicism and
maternal unipartental disomy for chromosome 16. Am J Med Genet 1998;80:418-422.
Maternal isodisomy in cases with a normal karyotype
Bernard LE, Penaherrera MS, Van Allen MI, Wang MS, Yong S-L, Gareis F, Langlois S,
Robinson WP. Clinical and molecular findings in two patients with Russell Silver syndrome
and UPD7. Am J Med Genet 1999;87:230-236.
Bruyère H, Rupps R, Kuchinka BD, Friedman JM, Robinson WP. Recurrent trisomy 21 in a
couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for
chromosome 21 in the euploid cell line. Am J Med Genet 2000;94:35-41.
Dufourcq-Lagelouse R, Lambert N, Duval M, Viot G, Vilmer E, Fischer A, Prieur M, de
Saint Basile G. Chediak Higashi syndrome associated with maternal uniparental isodisomy of
chromosome 1. Europ J Hum Genet 1999;7:633-637
Eggermann T, Wollmann HA, Kuner R, Eggermann K, Enders H, Kaiser P, Ranke MB.
Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of
uniparental disomy. Hum Genet 1997;100:415-419.
Hannula K, Lipsanen-Nyman M, Kristo P, Kaitila I, Simola KO, Lenko HL, Tapanainen P,
Holmberg C, Kere J. Genetic screening for maternal uniparental disomy of chromosome 7 in
prenatal and postnatal growth retardation of unknown cause. Pediatrics 2002;109(3):441-448.
Hehr U, Dörr S, Hagemann M, Hansmann I, Preiss U, Brömme S. Silver-Russell syndrome
and cystic fibrosis associated with uniparental disomy 7. Am J Med Genet 2000;91:237-239.
Karanjawala Z, Kääriäinen H, Ghosh S, Tannenbaum J, Martin C, Ally D, Tuomilehto, Valle
T, Collins FS. Complete maternal isodisomy of chromosome 8 in an individual with an early-
onset ileal carcinoid tumor. Am J Med Gene 2000;93(3):207-10
Kotzot D, Balmer D, Baumer A, Chrzanowska K, Hamel BCJ, Ilyina H, Krajewska-Walasek
M, Otten BJ, Lurie IW, Otten BJ, Schoenle E, Tariverdian G, Schinzel A. Maternal
uniparental disomy 7 - Review and further delineation of the phenotype. Eur J Pediatr
2000;159:247-256.
Kousseff BG, Gallardo LA, Mueller OT. Unusual clinical presentation associated with
uniparental disomy of chromosome 10 in a child presymptomatic for multiple endocrine
neoplasia type 2A. Am J Hum Genet 1992;51:Suppl:863.
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Schlegel M, Baumer A, Riegel M, Wiedemann U, Schinzel A. Maternal uniparental
isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal
chromosome 10 in a fetus. Prenat Diagn 2002;22:418-421.
Slater H, Shaw JH, Dawson G, Bankier A, Forrest SM. Maternal uniparental disommy of
chromosome 13 in a phenotypically normal child. J Med Genet 1994;31:644-646.
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genetic disease. Am J Hum Genet 1988;42:217-226.
Spiekerkoetter U, Eeds A, Yue Z, Haines J, Strauss AW, Summar M. Uniparental disomy of
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Stallard R, Krueger S, James RS, Schwartz S. Uniparental isodisomy 13 in a normal female
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Sulisalo T, Mäkitie O, Sistonen P, Ridanpää M, El-Rifai W, Ruuskanen O, de la Chapelle A,
Kaitila I. Uniparental disomy in cartilago-hair hypoplasia. Eur J Hum Genet 1997;5:35-42.
Sutcliffe MJ, Mueller OT, Gallardo LA, Papenhausen PR, Tedesco TA. Maternal isodisomy
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Maternal isodisomy associated with a chromosome aberration
Bartsch O, Petersen MB, Stuhlmann I, Mau G, Frantzen M, Schwinger E, Antonarakis SE,
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Paternal heterodisomy in cases with a normal karyotype
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Paternal isodisomy in cases with a normal karyotype
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Fritz B, Aslan M, Kalscheuer V, Ramsing M, Saar K, Fuchs B, Rehder H. Low incidence of
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Paternal isodisomy associated with a chromosome aberration
Bartsch O, Petersen MB, Stuhlmann I, Mau G, Frantzen M, Schwinger E, Antonarakis SE,
Mikkelsen M: ”Compensatory uniparental disomy of chromosome 21 in two cases. J Med
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