03q210

3q21

Publication Details

  • Atkins L, Miller W, 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. 373
    46,XY,-14,+der(14),t(3;14)(q21;q32)pat.
    Aberration: Reciprocal translocation
    Negative band

  • Aurias A, Prieur M, Dutrillaux B, Lejeune J: Systematic analysis of 95 reciprocal translocations of autosomes. Hum. Genet. 45:259-282, 1978. [PubMed: 738728]
    Patient I.P. No. 17306 in this report.
    46,XX,t(3;14)(q21;q31).&"46,XX,t(3;14)(3pter -> 3q21::14q31 -> 14qter;14pter -> 14q31::3q21 -> 3qter)."
    Aberration: Reciprocal translocation
    Negative band

  • Barisic I, Zergollern L, Muzinic D, Hitrec V.: Risk estimates for balanced reciprocal translocation carriers - prenatal diagnosis experience. Clin. Genet. 49:145-151, 1996. [PubMed: 8737980]
    Family No. 10:
    t(3;10)(q21;q11)mat.,Fetal karyotype was 46,XX,t(3;10).
    Family ascertained because of spontaneous abortion.
    Aberration: Reciprocal translocation
    Index Terms: Risk estimates
    Negative band

  • Barsel G, 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. 394.
    46,XX,t(3;16)(q21;p13)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Bell C W, Pathak S, Grant G, Frost P: A familial translocation involving chromosomes 3 and 21: clinical findings and implications. Cytogenet. Cell Genet. 50:59-60, 1989. [PubMed: 2743819]
    46,XX,t(3;21)(q26;q22).
    Negative band

  • Blumberg B, Moore R, Mohandas T K: Partial 3q trisomy due to an unbalanced 3/10 translocation. AJMG 7:335-339, 1980. [PubMed: 7468658]
    46,XY,t(3;10)(q21;p15).&"46,XY,t(3;10)(3pter -> 3q21::10p15 -> 10pter; 10qter -> 10p15::3q21 -> 3qter)."
    Patient C. T. with multiple congenital anomalies and died after 20 hours.
    46,XX,-10,+der(10)t(3;10)(q21;p15)pat.
    Aberration: Reciprocal translocation
    Negative band

  • Same entry as in 03p250,03p270 (Boue et al, 1973,1974,1984).

  • 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(3;4)(q21;q31); t(3;13)(q21;q14); t(3;13)(q21;q22); t(3;15)(q21;q22); t(3;16)(q21;q12); t(3;17)(q21;q25).
    Aberration: Reciprocal translocation
    Negative band

  • Brown T, Robertson F W, Dawson B M, Hanlin S J, Page B M: Individual variation of centric heterochromatin in man. Hum. Genet. 55:367-373, 1980. [PubMed: 7203471]
    46,XX,t(3;16)(q21;q13).
    Aberration: Simple translocation
    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 2:
    46,XX,t(3;13)(q21;q22.2).
    At age 12, the patient shows moderate MR and poor language skills.
    Deleted at 3q21: 965b8, 770c10, 960f11, 767e12 regions.
    Aberration: RT,ID
    Chromosomal Aneuploidy: 3q-

  • Chen C P, Lee C C, Chuang C Y, Town D D, Lee M S, Chen M H.: Recurrent omphalocele with partial trisomy 3q and partial monosomy 11q. Clin. Genet. 52:196-198, 1997. [PubMed: 9377814]
    Chen C P, Liu F F, Jan S W, Chen C P, Lan C C.: Partial duplication of 3q and distal deletion of 11q in a stillbirth with an omphalocele containing the liver, short limbs, and intrauterine growth retardation. J. Med. Genet. 33:615-617, 1996. [PMC free article: PMC1050675] [PubMed: 8818953]
    Chen C-P.: Inconsistency of omphalocele contents in three consecutive siblings with partial trisomy 3q and partial monosomy 11q. Prenat. Diag. 19:591, 1999. [PubMed: 10416982]
    46,XX,der(11)t(3;11)(11pter->11q23::3q21->3qter)mat.
    In the second pregnancy, reported in 1997, an omphalocele containing the liver, short limbs and IUGR were observed at 18 weeks. The pregnancy was terminated at 22 weeks.
    46,XX,der(11)t(3;11)(q21;q23)mat.
    Still at 35 weeks, with IUGR, short femoral length and normal MSAFP.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 3q+;11q-
    Index Terms: Omphalocele,Limbs short
    Negative band

  • Crandall B, 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. 1744.
    46,XY,inv(3)(q21q29)mat.
    Aberration: Inversion paracentric
    Negative band

  • De Die-Smulders C E M, Engelen J J M, Donk J M, Fryns J P: Further evidence for the location of the BPES gene at 3q2. J. Med. Genet. 28:725, 1991. [PMC free article: PMC1017067] [PubMed: 1941972]
    46,XY,der(3)der(11)t(3;11)(q21;q23)pat.
    Both father and son (6 months old) showed the typical signs of blepharophimosis, ptosis, telecanthus, and epicanthus inversus.
    Aberration: Reciprocal translocation
    MIM#: 110100
    Index Terms: Blepharophimosis,Epicanthus inversus,Telecanthus,Ptosis
    Negative band

  • Djalali M, Steinbach P, Barbi G: Familial paracentric inversion inv(3)(q21q25.1). Case report and review of the literature. Ann. Genet. 27:41-44, 1984. [PubMed: 6372643]
    46,XY,inv(3)(q21q25.1).&46,XX,der inv(3)(q21q25.1)pat.
    Aberration: Inversion paracentric
    Negative band

  • Fear C N, Briggs A: Familial partial trisomy of the long arm of chromosome 3(3q). Arch. Dis. Childhood 54:135-138, 1979. [PMC free article: PMC1545362] [PubMed: 434890]
    46,XX,t(3;13)(q21;q34).&"46,XX,der(13)t(3;13)(q21;q34)mat."&"46,XX,der(13)t(3;13)(13pter -> 13q34::3q21 -> 3qter)mat."&"The child died soon after delivery. Clinical features included: a square-shaped face; wide nasal bridge and everted nostrils; small malformed and malpositioned ears; absence of right eye; high arched palate; a short webbed neck; clinodactyly of the 5th fingers, lumbar meningomyelocele with congenital dislocation of both hips, and bilateral talipes equinovarus."
    Necropsy-Guy''s Hospital No. 362/76.
    Aberration: Simple translocation
    Index Terms: Clinodactyly,Dislocation ... hip,Ears ... anomalies (dysmorphic),Face ... square-shaped,Foot ... talipes equinovarus (club foot),Hip(s) ... dislocation (coxa vara),Meningomyelocele,Neck ... short webbed,Ocular (optic) anomalies,Palate ... high arched
    Negative band

  • Goodman A B.: Disruption of genes in the retinoid cascade may explain the microscopic neuroblastoma in a fetus with de novo unbalanced translocation. AJMG 56:123, 1995. [PubMed: 7747778]
    Qureshi F, Jacques S M, Johnson M P, Reichler A, Evans M I: Microscopic neuroblastoma in a fetus with a de novo unbalanced translocation. AJMG 53:24-28, 1994. [PubMed: 7802031]
    46,XX,-10,der(10),t(3;10)(q21;q26)de novo.
    Fetopsy findings were done on the 18 week specimen.
    An interesting combination of two mutational events of a de novo chromosomal translocation and a microscopic neuroblastoma.
    MIM#: 256700
    Chromosomal Aneuploidy: 3q+
    Index Terms: Neuroblastoma
    Negative band

  • Hughes P J, Rice Edwards J M, Ridler M A C, Lane R J M: "A balanced autosomal translocation (3;9) associated with primary hypogonadism and dorsal spine stenosis." Clin. Genet. 43:44-45, 1993. [PubMed: 8462195]
    46,XY,t(3;9)(q21;p13).
    A 49 year old man was investigated for progressive gait disturbance. He was a mobile crane driver.
    Aberration: Reciprocal translocation
    MIM#: 241090
    Index Terms: Hypogonadism,Dorsal spine stenosis
    Negative band

  • Husslein P, Schnedl W, Wagenbichler P: "Antenatal diagnosis of a de novo reciprocal translocation 46,XX,t(3;7)(q21;q11)." Hum. Genet. 51:113-116, 1979. [PubMed: 500088]
    Both parents showed a normal karyotype. The girl showed no phenotypic abnormality at birth.
    Aberration: Simple translocation
    Negative band

  • Ismail S R, Kousseff B G, Kotb S M, Kholeif S F: Duplication 3q(q21 to qter) without limb anomalies. AJMG 38:518-522, 1991. [PubMed: 2063889]
    Patient MA.
    46,XY,t(3;6)(q21;p25).&"46,XY,-6,+der(6)t(3;6)(6qter -> 6p25::3q21 -> 3qter)pat."
    The 2.5 month old was studied because of hypertelorism, hypertrichosis, anteverted nostrils, malformed ears, thin lips, downturned corners of the mouth, micrognathia, short neck, cryptorchidism, and bilateral simian creases without limb anomalies.
    There is some discussion with regard to limb morphogenesis in embryos with chromosome anomalies.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 3q+
    Index Terms: Limb anomalies
    Negative band

  • Kadotani T, Watanabe Y, Takemura I: A case of XY-female from the family with two 3/4 reciprocal translocations. Proc. Jpn. Acad. Ser. B. 62:187-190, 1986.
    46,XX,der rcp(3;4)(q21;p16)pat.
    Aberration: Reciprocal translocation
    Negative band

  • Kalousek D K, 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. 396 and 397.
    46,XY,t(3;16)(q21;q13)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Kreiger D, Palmer C G, Biegel A: Human autosomal deletion mapping and HL-A. Humangenetik 23:159-160, 1974. [PubMed: 4852303]
    46,XX,t(3;9)(q21;p22).&"46,XX,-9,+der(9)t(3;9)(q21;p22)mat."
    Aberration: Simple translocation
    Negative band

  • Maier B, Beck J D: Dup 3(q) syndrome and neuroblastoma. Europ. J. Pediat. 151:715-716, 1992. [PubMed: 1396939]
    A newborn patient.
    mos46,XX(80%)/46,XX,dir ins(3;3)(q29;q21q27)(20%).&"46,XX,dir ins(3;3)(q29;q21q27)(100%)-skin fibroblasts."
    Aberration: Direct insertion between two chromosomes
    MIM#: 256700
    Index Terms: Neuroblastoma
    Negative band

  • Makino T, Tabuchi T, Nakada K, Iwasaki K I, Tamura S, Iizuka R: Chromosomal analysis in Japanese couples with repeated spontaneous abortions. Int. J. Fertil. 35:266-270, 1990. [PubMed: 1980661]
    46,XX,t(3;16)(q21;p13).
    Aberration: Reciprocal translocation
    Negative band

  • Markovic S, Radojkovic Z, Sulovic V, Adzic S, Mijin K: Autosomal aberraations in newborn infants. Med. Invest. J. Belgrade U. School of Med. 14(Suppl. 1-2):19-21, 1981.
    46,XY,t(3;11)(q21;q25).
    Aberration: Reciprocal translocation
    Negative band

  • Naritomi K, Izumikawa Y, Tohma T, Hirayama K: Inveted insertion of chromosome 7q and ectrodactyly. AJMG 46:492-493, 1993. [PubMed: 8322806]
    46,XY,inv ins(3;7)(q21;q34q22)de novo.
    The young boy had ectrodactyly of hands and feet.
    The gene responsible for ectodermal dysplasia may be assigned to 7q22.1.
    Aberration: Inverted insertions within a chromosome
    Index Terms: Ectrodactyly
    Negative band

  • Priest J H, 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. 310.
    46,XX,t(3;4)(q21;p16.3).
    Aberration: Reciprocal translocation
    Negative band

  • Raimondi S C, Luthardt F W, Summitt R L, Martens P R: High-resolution chromosome analysis of phenotypically abnormal patients with apparently balanced structural rearrangements. Hum. Genet. 63:310-314, 1983. [PubMed: 6862433]
    46,XY,rcp(3;16)(q21;p13.1).
    Aberration: Reciprocal translocation
    Negative band

  • Rosenfeld W, Verma R S, Jhaveri R C, Estrada R, Evans H, Dosik H: Duplication 3q: Severe manifestations in an infant with duplication of a short segment of 3q. AJMG 10:187-192, 1981. [PubMed: 7315875]
    46,XX,dup(3q),(3pter -> 3q26::3q21 -> 3qter).
    Parents'' chromosomes were normal. Patient was 9 months old and had a broad nasal bridge, anteverted nostrils, webbed neck, clinodactyly, congenital heart disease, limb abnormalities, cleft palate, and severe developmental delay.
    Aberration: Duplication
    Index Terms: Cleft lip/palate,Clinodactyly,Congenital heart defects (cardiovascular anomalies),Neck ... webbed
    Negative band

  • Scholtes M C W, Behrend C, Dietzel-Dahmen J, van Hoogstraten D G, Marx K, Wohlers S, Verhoeven H, Zeilmaker G H.: Chromosomal aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates. Fert. Steril. 70:933-937, 1998. [PubMed: 9806579]
    2,280 patients undergoing ICSI were studied.
    46,XX,t(3;13)(q21;q22)
    Aberration: Reciprocal translocation
    Index Terms: ICSI

  • 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 No. 337.
    46,XY,t(3;7)(q21;q36)pat.
    Aberration: Reciprocal translocation
    Negative band

  • Shanske A L, Leonard J, Nahum O, Coppock D L, Levy B.: Delineation of the breakpoints of pure duplication 3q due to a de novo duplication event using SOMA. AJMG Part A: DOI=10.1002/ajmg.a.33431, 2010. [PubMed: 21108406]
    46,XY,ins(3)(?q22?).ish dup(3)(pter->q22.2::q29->q22.2::q22.2->qter)(wcp3+,BCL6++,D3S4560+).arr3q22.2q29(136,044,785-197,194,059)x3..
    Patient was 3 and 1/2 years old
    Aberration: Duplication
    Chromosomal Aneuploidy: 3q+
    Index Terms: SOMA

  • Simpson J L, Elias S, Meyers C M, Ober C, Martin A O: Translocations are infrequent among couples having repeated spontaneous abortions but no other abnormal pregnancies. Fert. Ster. 51:811-814, 1989. [PubMed: 2707455]
    46,XX,rcp(3;13)(3pter -> 3q21::13q22 -> 13qter;13pter -> 13q22::3q21 -> 3qter).
    Aberration: Reciprocal translocation
    Index Terms: Spontaneous abortion,Translocation
    Negative band

  • Sod R, Giorgiutti E, Matayoshi T, Gelman de Kohan Z, Munoz E: "Familial transmission of a 3q;22p translocation, with partial trisomy of chromosome 3 in the propositus." J. Genet. Hum. 26:173-176, 1978. [PubMed: 670944]
    46,XX,t(3;22) (q21;p11).&"46,XX,der(3)der(22)t(3;22)(q21;p11)mat."
    Patient S.N.L., 5 months in this report.
    46,XY,-22,+der(22)t(3;22)(q21;p11)mat.&"46,XY,-22,+der(22)t(3;22)(22qter -> 22p11::3q21 -> 3qter)mat."
    There were two other sibs, who were not karyotyped, one was reported to have similar phenotypic abnormalities. The proband anomalies included dolichocephaly, bilateral glaucoma, small nose with upward pointing nostrils, long philtrum, down-turned mouth, arched palate, micrognathia, low set malformed ears, capillary hemangiomata covering forehead, nose, upper lip and right preauricular area, small thorax with widely spaced nipples, umibilical hernia, bilateral undescended testes, short penis, generalized loose skin and hypertonia with permanent opisthotonos.
    Aberration: Simple translocation
    Index Terms: Dolichocephaly,Ears ... low-set malformed,Glaucoma,Hemangioma,Hernia ... umbilical,Hypertonia,Micrognathia,Mouth ... downturned corners,Opisthotonos,Palate ... anomaly,Penis ... hypoplastic (microphallus),Philtrum ... long,Testes ... undescended (cryptorchidism),Thorax ... narrow,Umbilical hernia
    Negative band

  • Steinbach P, Adkins W N, Caspar H, Dumars K W, Gebauer J, Gilbert E F, Grimm T, Habedank M, Hansmann I, Herrmann J, Kaveggia E G, Langenbeck U, Meisner L F, Najafzadeh T M, Opitz J M, Palmer C G, Peters H H, Scholz W, Tavares A S, Wiedeking C: The Dup (3q) syndrome: Report of eight cases and review of the literature. AJMG 10:159-177, 1981. [PubMed: 7315873]
    The clinical syndrome is characterized by statomotoric retardation, shortened life span, and multiple congenital anomalies including abnormal head configuration, hypertrichosis, hypertelorism, ocular anomalies, anteverted nostrils, long philtrum, maxillary prognathia, downturned corners of the mouth, highly arched or cleft palate, micrognathia, malformed auricles, short, webbed neck, clinodactyly, simian crease, talipes, and congenital heart disease.
    Patient 1(MD).
    46,XY,der(15)t(3;15)(q26;p12)mat.
    Patient 2 (LB).
    46,XY,der(12)t(3;12)(q21;q24)mat.
    Patient 3 (JR).
    46,XX,der(5)t(3;5)(q21;p15)mat.
    Patient 4 (TM).
    46,XX,der(9)t(3;9)(q25;p24)mat.
    Patient 5.
    46,XY,der(2)t(2;3)(q37;p25)pat.
    Patient 6.
    46,XX,t(2;3)(q37;q25).
    Patients 7 and 8 (ML and DL).
    46,XX and XY,del(3p)dup(3q)rec(3)(p25q25).
    Index Terms: Cleft lip/palate,Clinodactyly,Congenital heart defects (cardiovascular anomalies),Foot ... talipes equinovarus (club foot),Hypertelorism,Hypertrichosis,Micrognathia,Mouth ... downturned corners,Neck ... short webbed,Ocular (optic) anomalies,Palate ... high arched,Philtrum ... long,Statomotor retardation
    Negative band

  • Stengel-Rutkowski S, Murken J D, Pilar V, Dutrillaux B, Rodewald A, Goebel R, Basserman R: New chromosomal syndromes. 3. Partial trisomy 3q. Europ. J. Ped. 130:111-125, 1979. [PubMed: 421691]
    Partial trisomy 3q syndrome is characterized by hypertrichosis, typical craniofacial dysmorphia, frequent organ malformations and skeletal anomalies, early death and dermatoglyphic anomalies.
    The patient died 4 months after birth.&"46,XX,dir dup 3q21 -> 3q27; or 46,XX, ins(3)(pter -> q21::q21 -> q27::q21 -> qter)."
    Aberration: IN,DU
    Index Terms: Facial dysmorphism,Hypertrichosis
    Negative band

  • Stetten G, 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. 385.
    46,XX,t(3;15)(q21;p13)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Tharapel A T, Summitt R L: A cytogenetic survey of 200 unclassifiable mentally retarded children with congenital anomalies and 200 normal controls. Hum. Genet. 37:329-338, 1977. [PubMed: 885553]
    Tharapel A T, Summitt R L, Wilroy R S, Jr, Martens P R: Apparently balanced de novo translocations in patients with abnormal phenotype: report of 6 cases. Clin. Genet. 11:255-269, 1977. [PubMed: 856508]
    Case 3 in this report.
    46,XY,rcp(3;16)(q21;p12).&The phenotype is characterized by mental retardation, microcephaly, hypospadias, short fifth fingers, syndactyly of toes and hypertonia. Parental karyotypes were normal.
    Aberration: Reciprocal translocation
    Index Terms: Fingers ... short,Hypertonia,Hypospadias,Microcephaly,Syndactyl(y)(ia)
    Negative band

  • Tonnies H, Stumm M, Wegner R-D, Chudoba I, Kalscheuer V, Neitzel H.: Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics. Cytogenet. Cell Genet. 93:188-194, 2001. [PubMed: 11528111]
    8/100 cases referred for evaluation of congenital malformations and dysmorphic features.
    Case 7=46,XY,der(3)del(3)(q21q23)t(3;21)(3pter->3q21::21q22.3->21qter;21pter->21q22.3::3q23->3qter).
    Aberration: ID,IX
    Chromosomal Aneuploidy: 3q-

  • Uchida I A, Freeman V, 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. 372
    46,XX,t(3;14)(q21;q24)mat.
    Aberration: Reciprocal translocation
    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,XX,inv(3)(q21q31).
    46,XX,t(3;10)(q21;q26).&"46,XY,t(3;17)(q21;q23)."
    Aberration: IP,RT
    Negative band

  • Wenger S L, Steele M W, Boone L Y, Lenkey S G, Cummins J H, Chen X Q.: "Balanced" karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents. AJMG 55: 47-52, 1995. [PubMed: 7702096]
    It is commented that newborn infants inheriting a seemingly "balanced" karyotype from a normal parent with a balanced reciprocal translocation may still be at an increased risk of being malformed and/or developmentally delayed because of submicroscopic chromosomal imbalances. It is proposed that autosomal fragile sites are unstable areas which predispose to breaks and unequal crossing over near the fragile site breakpoints creating minute duplications and deletions.
    46,XX,-5,+der(5),t(3;5)(q21;q35)pat.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 5q-;
    Negative band

  • Wolstenholme J, Brown J, Masters K G, Wright C, English C J: Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 \46,XY,del(3)(q21q23)\. J. Med. Genet. 31:647-648, 1994. [PMC free article: PMC1050030] [PubMed: 7815425]
    46,XY,del(3)(q21q23)de novo.
    Cordocentesis was done after diaphragmatic hernia was detected by ultrasound. Pregnancy terminated at 24 weeks.
    Aberration: Interstitial deletion
    MIM#: 110100
    Chromosomal Aneuploidy: 3q-
    Index Terms: Blepharophimosis,Diaphragmatic hernia,Cordocentesis
    Negative band

  • Yunis E, Quintero L, Casteneda A, Ramirez E, Leibovici M: Partial trisomy 3q. Hum. Genet. 48:315-320, 1979. [PubMed: 468231]
    Patient was 5 years old with severe congenital malformations and psychomotor retardation.
    46,XX,t(3;21)(q21;qter).&"46,XX and XY,der(3)der(21)t(3;21)(q21;qter)mat."&"46,XX,der(21)t(3;21)(21pter -> 21qter::3q21 -> 3qter)mat."&Most common features of 3q trisomy, based on 12 cases, are mental retardation, short stature, microcephaly, hypertrichosis, thick, confluent eyebrows, long eyelashes, low-set ears, unusually long nasolabial distance, micrognathia, phalanged alterations, and seizures.
    Aberration: Simple translocation
    Index Terms: Ears ... low-set,Hypertrichosis,Microcephaly,Micrognathia,Seizures,Stature ... short (low)
    Negative band