04p140

4p14

Publication Details

  • Abuelo D N, Barsel-Bowers G, Richardson A: Insertional translocations: report of two new families and review of the literature. AJMG 31:319-329, 1988. [PubMed: 2852898]
    Family 2.
    46,XY,inv 4(p14q211)ins(7;4)(q32;q211q23).&"Proband:46,XX,-4,+der(4)ins(7;4)(4pter -> 4p14::4q211 -> 4p14::4q23 -> 4qter)pat."
    Family was ascertained because of a child with abnormalities.
    Aberration: Inverted insertions between chromosomes
    Chromosomal Aneuploidy: 4q-
    Index Terms: Insertional translocations
    Negative band

  • Batanian J, Brun B, Chandley A C, Croquette M F, Delafontaine D, Gabriel-Robez O, Guichaoua M R, Hargreave T B, Hulten M A, Jaafar H, Johannisson R, Lohrs U, Luciani J M, McBeath S, Noel B, Passarge E, Perdigo A de, Quack B, Rigot J M, Rumpler Y, Saadallah N, Schwinger E, vom Ende U, Wolff H.: The meiotic pairing behaviour in human spermatocytes carrier of chromosome anomalies and their repercussions on reproductive fitness. II. - Robertsonian and reciprocal translocations. A European collaborative study. Ann. Genet. 39:17-25, 1996.
    46,XY,t(4;16)(p14;p11.2)
    Ascertained in subfertility clinic, low rate of association; but high rate of asynapsis, and 2% relationship with XY..
    Aberration: Reciprocal translocation
    Index Terms: Spermatocytes
    No band

  • Battaglia A, Brothman A R, Carey J C.: Recombinant 4 syndrome due to an unbalanced pericentric inversion of chromosome 4. AJMG DOI=10.1002/ajmg.10640; 112:103-106, 2002. [PubMed: 12239731]
    The patient, T.P., was evaluated because of MCA/MR.
    46,XY,rec(4)dup(4p)inv(4)(p14q35.1)mat.
    Aberration: RE,PI
    Chromosomal Aneuploidy: 4p+;4q-

  • Same entry as in 01p360,03p130,04q250 (Boue and Gallano, 1984).

  • Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]
    t(4;6)(p14;p25); t(4;10)(p14;q26); t(4;11)(p14;p15); t(4;15)(p14;q24); t(4;18)(p14;p11); t(4;18)(p14;q21); t(4;20)(p14;q13); inv(4)(p14q35); inv(4)(p14q25).
    Aberration: PI,RT
    Negative band

  • Breg W R, Aronson M M, Greene A E, Coriell L L: Deletion of the short arm of chromosome 4 from a subject with Wolf''s syndrome. Repository identification No. GM-72. Cytogenet. Cell Genet. 18:307-308, 1977. [PubMed: 560288]
    Same case reported by Miller et al, 1966 and 1970 and Warburton et al, 1967 and cited under 04p100.
    Aberration: Terminal deletion
    Index Terms: Wolf-Hirschhorn syndrome
    Negative band

  • Bugge M, Bruun-Petersen G, Brondum-Nielsen K, Friedrich U, Hansen J, Jensen G, Jensen P K A, Kristoffersson U, Lundsteen C, Niebuhr E, Rasmussen K R, Rasmussen K, Tommerup N.: Disease associated balanced chromosome reaarngements: a resource for large scale genotype-phenotype delineation in man. J. Med. Genet. 37:858-865, 2000. [PMC free article: PMC1734480] [PubMed: 11073540]
    Wirth J, Nothwang H-G, van der Maarel S, Menzel C, Borck G, Lopez-Pajares I, Brondum-Nielsen K, Tommerup N, Bugge M, Ropers H-H, Haaf T.: Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes. J. Med. Genet. 36:271-278, 1999. [PMC free article: PMC1734345] [PubMed: 10227392]
    Case 4:
    46,XY,t(4;13)(p14;q32).
    The patient, born in 1978, was at a special school, could eat and dress by himself.
    Aberration: Reciprocal translocation

  • Coco R, Penchaszadeh V B: Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause. AJMG 12:155-173, 1982. [PubMed: 7102722]
    Case 72.
    46,XY,del(4)(p14).
    Aberration: Terminal deletion
    Negative band

  • Couzin D A, Watt J L, Stephen G S: Structural rearrangements in the parents of children with primary trisomy 21. J. Med. Genet. 24:280-282, 1987. [PMC free article: PMC1050051] [PubMed: 2953898]
    46,XX,inv(4)(p14q23).
    Aberration: Inversion pericentric
    Index Terms: Down syndrome (Trisomy 21)
    Negative band

  • Crane J, Sujansky E, Smith A: 4p trisomy syndrome: Report of 4 additional cases and segregation analysis of 21 families with different translocations. AJMG 4:219-229, 1979. [PubMed: 517577]
    Family A, Individual II-2 in this report.
    46,XX,t(4;9)(p14;p24).
    Individual III-5 in this report.
    46,XX,der(4)der(9)t(4;9)(p14;p24)mat.
    Individuals III-1 PT10467 and III-4 KT62175 in this report.
    46,XY,-9,+der(9)t(4;9)(p14;p24)mat.&"46,XY,-9,+der(9)t(4;9)(9qter -> 9p24::4p14 -> 4pter)mat."
    Aberration: Reciprocal translocation
    Negative band

  • Crisalli M, Monteverde R, Bonioli E, Vianello M G: Un nouveau cas de trisomie 4p partielle. J. Genet. Hum. 23:187-196, 1975. [PubMed: 1214175]
    Case R.G. (090271) in this report.
    46,XX,dup(4p)(p14 -> p16).
    Aberration: Duplication
    Negative band

  • Daniel A: Structural differences in reciprocal translocations. Potential for a model of risk in rcp. Hum. Genet. 51:171-182, 1979. [PubMed: 511145]
    Daniel A, Stewart L, Saville T, Brookwell R, Paull H, Purvis-Smith S, Lam-Po-Tang P R L C: Prenatal diagnosis in 3,000 women for chromosome, X-linked and metabolic disorders. AJMG 11:61-75, 1982. [PubMed: 7065004]
    Registry No. 0281 in this report.
    46,XY,der(21),t(4;21)(p14;q22)mat.
    Registry No. 0969 in this report.
    46,XX,t(4;14)(p14;q13)mat.
    Aberration: Reciprocal translocation
    Index Terms: Metabolic disorders
    Negative band

  • De Arce M A, Grace P M, McManus S: A computer model for the study of segregation in reciprocal translocation carriers: application to 20 new cases. AJMG 24:519-525, 1986. [PubMed: 3755291]
    t(4;14)(p14;q32).
    Aberration: Reciprocal translocation
    Negative band

  • del Mazo J, Florit F, Calafell R, Abrisqueta J A: Four cases of partial trisomy 4p by preferential segregation in a familial translocation. Hum. Genet. 66:370, 1984. [PubMed: 6724587]
    46,XX or XY,-17,+der(17)t((4;17)(17pter -> 17q25::4p14 -> 4pter)mat and pat.
    Aberration: Simple translocation
    Negative band

  • Fryns J P: Syndrome of proximal interstitial deletion 4p15. AJMG 58:295-296, 1995. [PubMed: 8533836]
    Fryns J P, Yang A, Kleczkowska A, Lemmens F, Vandecasseye W, van den Berghe H: Interstitial deletion of the short arm of chromosome 4. A phenotype distinct from the Wolf-Hirschhorn syndrome. Ann. Genet. 32:59-61, 1989. [PubMed: 2751251]
    Patient B.P. was 3 months old.
    46,XY,del(4)(pter -> p15.3::p14 -> qter)de novo.
    Dysmorphic features include hypotonia, microretrognathia, bilateral epicanthus, small scrotum, bilateral cryptorchidism, hemangioma, and bilateral simian creases.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 4p-
    Negative band

  • Fujimoto S, Yokochi K, Morikawa H, Nakano M, Shibata H, Togari H, Wada Y.: Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome. AJMG 86:427-429, 1999. [PubMed: 10508983]
    46,XY,del(10)(p14p15.1)de novo
    The 18-month-old boy was investigated because of left hemiplagia. He had HDR, and recurrent cerebral infarctions in the basal ganglia. At 12 years of age, he was moderately MR.
    Aberration: Interstitial deletion
    MIM#: 146255
    Chromosomal Aneuploidy: 10p-
    Index Terms: Hypoparathyroidism, Sensorineural deafness, Renal dysplasia (HDR) syndrome

  • Gadow E C, Lippold S, Otano L, Serafin E, Scarpati R, Matayoshi T: Chromosome rearrangements among couples with pregnancy losses and other adverse reproductive outcomes. AJMG 41:279-281, 1991. [PubMed: 1789279]
    46,XY,t(4;14)(p14;q24).
    Aberration: Reciprocal translocation
    Index Terms: Pregnancy ... loss
    Negative band

  • Gilgenkrantz S, Gentin G: Translocation equilibree avec aneusomie de recombinaison dans la descendance. J. Genet. Hum. 23:114, 1975. [PubMed: 1240121]
    46,XX,t(4;20)(p14;q13).
    Aberration: Simple translocation
    Negative band

  • Gonzalez C H, Sommer A, Meisner L F, Elejalde B R, Opitz J M: The trisomy 4p syndrome: case report and review. AJMG 1:137-156, 1977. [PubMed: 416713]
    46,XX,t(4;22)(p14;p12).&"46,XY,der(22)t(4;22)(p14;p12)mat."
    Aberration: Simple translocation
    Negative band

  • Gusella J F, Tanzi R E, Bader P I, Phelan M C, Stevenson R E, Hayden M R, Hofman K J, Faryniarz A G, Gibbons K: Deletion of Huntington''s disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. Nature 318:75-78, 1985. [PubMed: 2997623]
    Family # 347.
    46,XY,del(4)(qter -> p14:).
    Aberration: Terminal deletion
    MIM#: 143100
    Chromosomal Aneuploidy: 4p-
    Index Terms: Wolf-Hirschhorn syndrome
    Negative band

  • Hastings R, Hamer B, Roth S, Lucas M: Partial trisomy 4p resulting from a balanced intrachromosomal insertion, 4(q313p14p16). Clin. Genet. 38:121-125, 1990. [PubMed: 2170065]
    Mother-46,XX,ins(4)(q313p14p16).&Proband-46,XY,rec(4),dup p,ins(4)(q313p14p16)mat.
    Proband was 11 months old.
    Aberration: Direct insertions within a chromosome
    Chromosomal Aneuploidy: 4p+
    Negative band

  • Hecht F: Personal communication, 1974.
    46,XY,inv(4)(p14q22).
    46,XX,inv(4)(p14;q22).
    Aberration: Inversion pericentric
    Negative band

  • Higgins J V, Center J, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 454.
    46,XY,t(4;10)(p14;q11)mat.
    Observation No. 455.
    46,XX,t(4;10)(p14;q11)pat.
    Aberration: Reciprocal translocation
    Negative band

  • Hsu L Y F, Yu M T, Richkind K E, Van Dyke D L, Crandall B F, Saxe D F, Khodr G S, Mennuti M, Stetten G, Miller W A, Priest J H.: Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat. Diag. 16: 1-28, 1996. [PubMed: 8821848]
    Case III-2 from Priest, J H (Emory Univ. 87AD3069).
    mos46,XY/46,XY,inv(4)(p14q28)[30.6%]. 46,XY in blood.
    Normal male liveborn.
    Aberration: Inversion pericentric
    Negative band

  • Jacobs P A, Buckton K E, Cunningham C, Newton M S: An analysis of the break points of structural rearrangements in man. J. Med. Genet. 11:50-64, 1974. [PMC free article: PMC1013088] [PubMed: 4134839]
    M. R. C. Registry No. K192-297-71 in this report.
    46,XX,t(4;13)(p14;q14).
    M. R. C. Registry No. K57-210-68 in this report.
    46,XY,t(4;18)(p14;q11).
    Aberration: Simple translocation
    Negative band

  • Kerber S, Held K R: Early genetic amniocentesis-4 years'' experience. Prenat. Diag. 13:21-27, 1993. [PubMed: 8446568]
    Patient K.M.
    46,XY,del(4)(p14p15.2).
    Amniocentesis was performed at 13 weeks; a subsequent pregnancy tested at 12 weeks showed a normal female karyotype.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 4p-
    Index Terms: Early amniocentesis
    Negative band

  • Keren G, Chaki R, Katznelson M B M, Goldman B: The trisomy 4p syndrome: A case report. Europ. J. Ped. 138:273-275, 1982. [PubMed: 7117289]
    46,XX,t(4;18)(p14;p1).&"46,XX,-18,+der(18)t(4;18)(18qter -> 18p1::4p14 -> 4pter)mat."
    Aberration: Simple translocation
    Negative band

  • Kleczkowska A, Fryns J P, Van den Berghe H: Trisomy of the short arm of chromosome 4: the changing phenotype with age. Ann. Genet. 35:217-223, 1993. [PubMed: 1296518]
    Patient 1, M.J.
    46,XY,-15,+der(15)t(4;15)(15pter -> 15q26::4p14 -> 4pter)pat.&"46,XY and XX,t(4;15)(p14;q26)."&"46,XY,der(4)t(4;15)(4qter -> 4p14::15q26 -> 15qter)pat-cvs of IV-4."
    Patient followed from age of 5 months to 5 1/2 years. MR is severe, face is more triangular in shape and the chin more elongated.
    Patient 2, D.D.
    46,XX,der(15)t(4;15)(p14;q26)de novo.
    Patient was 3 1/2 months old.
    Patient 3, D.N.C.
    46,XX,rec(4),dup p,inv(4)(p14q35.2)de novo.&46,XX,rec(4),dup p,inv(4)(pter -> cen -> q35.2::p14 -> pter)de novo.
    Patient was 11 years old.
    Aberration: RT,PI,RE
    Chromosomal Aneuploidy: 4p+,4p-,15q-
    Negative band

  • Kondoh Y, Toma T, Ohashi H, Harada N, Yoshiura K-i, Ohta T, Kishino T, Niikawa N, Matsumoto N.: Inv dup del(4)(:p14->p16.3::p16.3->qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome. AJMG DOI=10.1002/ajmg.a.20208;120A:123-126, 2003. [PubMed: 12794704]
    46,XX,der(4)(:p14->p16.3::p16.3->qter)de novo
    The patient was 8 years old with WHS.
    Aberration: DU,IP
    Chromosomal Aneuploidy: 4p-;4p+
    Index Terms: WHS

  • Mikelsaar R V A, Ilus T A, Lurie I W: Distal trisomy 14q. J. Med. Genet. 24:380-381, 1987. [PMC free article: PMC1050109] [PubMed: 3612713]
    Patient was 9 months old.
    46,XY,dir ins(4;14)(p14;q24q32).&"46,XX,-4,+der(4),dir ins(4;14)(p14;q24q32)pat."
    Aberration: Direct insertion between two chromosomes
    Chromosomal Aneuploidy: 14q+
    Negative band

  • Mortimer J G, Chewings W E, Gardner R J M: A further report on a kindred with cases of 4p trisomy and monosomy. Hum. Hered. 30:58-61, 1980. [PubMed: 7353891]
    Mortimer J G, Chewings W E, Miethke P M, Smith G F: "Trisomy 4p and deletion 4p- in a family having a translocation, t(4p-;12p+)." Hum. Hered. 28:132-140, 1978. [PubMed: 621087]
    Individual I-1 in the pedigree.
    46,XY,t(4;12)(p14;p13).&"46,XY,t(4;12)(4qter -> 4p14::12p13 -> 12pter;12qter -> 12p13::4p14 -> 4pter)."
    Individual II-7 in the pedigree.
    46,XX,-12,+der(12),t(4;12)(p14;p13)pat.
    Individual III-2 in the pedigree was also the proband and a newborn.
    46,XY,-4,+der(4),t(4;12)(p14;p13)pat.,It appears that monosomy of bands 4p15 and 4p16 leads to full clinical features of 4p- syndrome. Some more information has been gathered in this interesting family. Two further individuals with 4p trisomy are described. Risk to carriers of having liveborn offspring with either 4p trisomy or monosomy is calculated to be 25%.
    Individuals II-1 and II-3 in the pedigree.
    46,XY,der(4)der(12),t(4;12)(p14;p13)pat.
    Aberration: Reciprocal translocation
    Negative band

  • Mostacci C, Ferraro M, Pelliccia F, Archidiacono N, Rocchi M, de Capoa A: Characterization of normal and rearranged human chromosomes by simultaneous Q- and R-banding with Chromomycin A3. Cytogenet. Cell Genet. 28:3-9, 1980. [PubMed: 6778662]
    46,XY,t(4;6)(4qter -> 4p14::6q27 -> 6qter;6pter -> 6q27::4p14 -> 4pter).
    Aberration: Reciprocal translocation
    Negative band

  • Neas K R, Chia N, Clarke M, Peters G, Ades L C.: A case of partial trisomy 4p syndrome presenting as severe hydronephrosis in utero. Clin. Dysmorphol. 12:179-181, 2003. [PubMed: 14564156]
    Proband=46,XY,der(22)inv(4)(p14p16.1)t(4;22)(p15.1;q13.31)pat.,Father=46,XY,inv(4)(p14p16.1)t(4;22)(p15.1;q13.31).
    The newborn, with MCA, died after 11 days from renal failure. It is suggested that the infant had trisomy of the segments 4p14->4p15.1 and 4p16.1->4pter with reciprocal monosomy of 22q13.31->22qter.
    Aberration: IP,ST
    Chromosomal Aneuploidy: 4p+;22q-
    Index Terms: Hydronephrosis

  • Osztovics M K, Toth S P, Wessely J A: Cytogenetic investigations in 418 couples with recurrent fetal wastage. Ann. Genet. 25:232-236, 1982. [PubMed: 6985013]
    46,XX,t(4;10)(p14;q22).
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band

  • Patil S R, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 471.
    46,XY,-11,+der(11),t(4;11)(p14;q25)pat.
    Aberration: Reciprocal translocation
    Negative band

  • Peng H-H, Wang T-H, Chao A-S, Chang Y-L, Chang S-D, Soong Y-K.: Prenatal diagnosis of monosomy 4p14->pter and trisomy 11q25->qter: clinical presentations and outcomes. Prenat. Diag. 25:1133-1137, 2005. [PubMed: 16231301]
    Father=46,XY,t(4;11)(p14;q25).,Fetus=46,XY,der(4)t(4;11)(p14;q25)pat.
    The fetus, detected because of low free beta-HCG in maternal serum and with MCA was aborted at 23 weeks.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 4p-;11q+

  • Portnoi M F, Joye N, Van den Akker J, Morlier G, Taillemite J L: Karyotypes of 1142 couples with recurrent abortion. Obst. Gynecol. 72:31-34, 1988. [PubMed: 3242501]
    46,XY,t(4;14)(p14;q13).
    Aberration: Reciprocal translocation
    Negative band

  • Rethore M O, Dutrillaux B, Job J C, Lejeune J: Trisomy 4p by aneusomie de recombinaison of an inv(4)(p14q35). Ann. Genet. 17:109-113, 1974. [PubMed: 4547937]
    46,XY,inv(4)(p14q35).&46,XY,inv(4)(pter -> p14::q35 -> p14::q35 -> qter).&46,XY,der(4)inv(4)(p14q35)pat.&46,XY,rec(4)dup p inv(4)(p14q35)pat.
    Aberration: PI,RE
    Negative band

  • Romain D R, Columbano-Green L M, Parfitt R G, Chapman C J, Smythe R H, Gebbie O B: A complex structural rearrangement of chromosome 4 in a woman without phenotypic features of Wolf-Hirschhorn syndrome. Clin. Genet. 28:166-172, 1986. [PubMed: 4042400]
    Patient V. H. was 32 years old.
    46,XX,inv(4)(pter -> p14::q12 -> p14::q12 -> qter)del(4)(pter -> p15.33::p15.2 -> qter).
    Aberration: Inversion pericentric
    Index Terms: Wolf-Hirschhorn syndrome
    Negative band

  • Schmidt R, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 1230.
    46,XY,inv(4)(p14q21)mat.
    Aberration: Inversion pericentric
    Negative band

  • Schrocksnadel H, Feichtinger C, Scheminzky C: "Trisomy 4p14 to 4pter with translocation t(4;15)(p14;p12) in the father." Humangenetik 29:329-335, 1975. [PubMed: 1176148]
    46,XY,t(4;15)(p14;p12).
    Case 080259 (Family B) in this report.
    46,XX,-15,+der(15)t(4;15)(p14;p12)pat.&A list of previously reported cases with trisomy 4p is included in this report.
    Aberration: Simple translocation
    Negative band

  • Schwanitz G, Grosse K P: Partial trisomy 4p with translocation 4p-,22p+ in the father. Ann. Genet. 16:263-266, 1973. [PubMed: 4544090]
    46,XY,t(4;22)(p14;p11).&"46,XY,t(4;22)(4qter -> 4p14::22p11 -> 22pter;22qter -> 22p11::4p14 -> 4pter)."&"46,XX and XY,-22,+der(22)t(4;22)(p14;p11)pat."
    Aberration: Reciprocal translocation
    Negative band

  • Shah H O, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation Nos. 456 and 457.
    46,XX,t(4;10)(p14;q22)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Smigiel R, Laczmanska I, Sasiadek M.: Maternal complex chromosome rearrangements involving five chromosomes 1, 4, 10, 12 and 20 ascertained through a del(4)(p14p15) detected in a mother''s first affected daughter. Clin. Dysmorphology 16: 63-64, 2007. [PubMed: 17159519]
    Mother=46,XX,der(4)t(1;4)(q42;q31)t(4;20)(p14p15;qter),t(10;12)(p13;q15).ish der(4)t(1;4)(wcp1+,wcp4+,wcp1+,wcp4+),t(4;20)(wcp4+;wcp4+;wcp20+),t(10;12)(wcp10+,wcp12+;wcp10+,wcp12+).,Proband=46,XX,der(4)del(4)(p14p15)t(1;4)(q42;q31).ish t(1;4)(q42;q31)(wcp1+,wcp4+;wcp1+,wcp4+).,Fetus=46,XX,der(20)t(4;20)(p14p15;qter)
    The first clinical examination of the newborn with 4p (p14p15) trisomy disclosed mild dysmorphic features. The 2 year-old had MR and dysmorphic features.
    Aberration: CT,ID
    Chromosomal Aneuploidy: 4p-; 4p+

  • Tachdjian G, Fondacci C, Tapia S, Huten Y, Blot P, Nessmann C: The Wolf-Hirschhorn syndrome in fetuses. Clin. Genet. 42:281-287, 1992. [PubMed: 1493641]
    Case 1.
    46,XX,del(4)(p14)de novo.
    Pregnancy terminated at 30 weeks.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 4p-
    Index Terms: Wolf-Hirschhorn syndrome
    Negative band

  • Ulm J E, Shah D M, Dev V G, Phillips J A III: Counseling and decision dilemmas associated with fetal blood sampling. AJMG 35:75-78, 1990. [PubMed: 2301473]
    Patient 3
    46,XY,del(4)(qter -> p14:).
    Oligohydramnios and growth retardation was found.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 4p-
    Negative band

  • Verloes A, Schaaps J P, Herens C, Soyeur D, Hustin J, Dodinval P: Prenatal diagnosis of cystic hygroma and chorioangioma in the Wolf-Hirschhorn syndrome. Prenat. Diag. 11:129-132, 1991. [PubMed: 2062819]
    46,XY,del(4)(qter -> p14:)de novo.
    Additional features found were a complex heart defect with right ventricular hypoplasia in the 24 week old fetus.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 4p-
    Index Terms: Cystic hygroma,Chorioangioma
    Negative band

  • Vinals F, Sepulveda W, Selman E.: Prenatal detection of congenital hypospadias in the Wolf-Hirschorn (4p-) syndrome. Prenat. Diag. 14:1166-1169, 1994. [PubMed: 7899285]
    46,XY,del(4)(p14).
    The neonate had several dysmorphic features including a dysmorphic face with hypertelorism, hypoplastic low-set ears, bilateral club-feet, and undescended testes with hypospadias.
    Aberration: Terminal deletion
    MIM#: 194190
    Chromosomal Aneuploidy: 4p-
    Index Terms: Congenital hypospadias, Wolf-Hirschhorn syndrome
    Negative band

  • Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]
    46,XY,inv(4)(p14q25).
    Aberration: Inversion pericentric
    Negative band

  • Wolstenholme J, Faed M J W, Robertson J, Lamont M A: Chromosome abnormality in couples with histories of multiple abortions. The outcome of pregnancies susequent to ascertainment and a study of familial translocation carriers. Hum. Genet. 63:45-47, 1983. [PubMed: 6832779]
    46,XY,t(4;18)(p14;p11).
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band