49,XXXXX

Publication Details

  • Alfi O S: Personal communication, 1978.

  • Archidiacono N, Rocchi M, Valente M, Filippi G: X pentasomy: A case and review. Hum. Genet. 52:69-77, 1979. [PubMed: 527976]
    Patient, FS, 220568, was 10 years old. The features were severe mental retardation, serious dental anomalies, various anomalies of the bones, and a high rate of gonadotropins. Data on 14 other cases are reviewed.
    Index Terms: Bone anomalies,Dental defects,Gonadal dysgenesis ... hypergonadotropism

  • Berger R, Loewe-Lyon S, Derre J, Ortiz M A: 49,XXXXX syndrome. Ann. Ped. 20:965-967, 1973.
    The authors have reviewed data on eight other cases and report their own case. They find features such as mental retardation, hypertelorism, dental and osseous anomalies, and, the remarkable one, is radioulnar synostosis is of frequent occurrence.
    Index Terms: Dental defects,Hypertelorism,Radioulnar synostosis

  • Brody J, Fitzgerald M G, Spiers A S D: A female child with five X chromosomes. J. Ped. 70:105-109, 1967. [PubMed: 6016790]

  • Carpenter D G, Connolly J M, Carter C H, Kanarek K S: The penta X (49,XXXXX) syndrome: Danger of confusing phenotype with mongolism. AJDC 133:330, 1979. [PubMed: 154838]
    Patient died 2 days after birth.
    Index Terms: Down syndrome (Trisomy 21)

  • Deng H X, Abe K, Kondo I, Tsukahara M, Inagaki H, Hamada I, Fukushima Y, Niikawa N: Parental origin and mechanism of formation of polysomy X: an XXXXX case and four XXXXY cases determined with RFLPs. Hum. Genet. 86:541-544, 1991. [PubMed: 1673956]
    Case 1, S.I.
    Maternal nondisjunction was determined as the source of X chromosome aneuploidy.
    Index Terms: Nondisjunction

  • Dryer R F, Patil S R, Zellweger H, Simpson J M, Hanson J W, Aschenbrenner C, Weinstein S L: Pentasomy X with multiple dislocation. AJMG 4:313-321, 1979. [PubMed: 539601]
    A 10 year old girl with hypoplasia of the glenoid process with consequent shoulder dislocation.
    Index Terms: Dislocation ... multiple,Dislocation ... shoulders

  • Farge P, Dallaire L, Albert G, Melancon S B, Potier M, Leboeuf G: Oral and dental development in X chromosome aneuploidy. Clin. Genet. 27:122-126, 1985. [PubMed: 3978846]
    Case 1.
    49,XXXXX.

  • Fragoso R, Hernandez A, Plascencia M L, Nazara Z, Martinez R, Cantu J M: 49,XXXXX syndrome. Ann. Genet. 25:145-148, 1982. [PubMed: 6982661]
    Patient was 3 years old.

  • Funderburk S J, Valente M, Klisak I: Pentasomy X: Report of patient and studies of X-inactivation. AJMG 8:27-33, 1981. [PubMed: 7246603]
    Patient was 5 years old and presented with mental retardation, microcephaly, short stature, ptosis, malocclusion, abnormal elbows, fifth finger clinodactyly, joint hyperextensibility in hands and feet, renal hypoplasia, nonobstructive uretal stasis, pyelonephritis, and renal failure.
    Index Terms: Clinodactyly,Elbows ... abnormal,Joints ... hyperextensibility,Malocclusion,Microcephaly,Ptosis,Pyelonephritis,Stature ... short (low),Uretal stasis ... nonobstructive

  • Gagnon S, Fraser W, Fouquette B, Bastide A, Bureau M, Fontaine J Y, Huot C: Nature and frequency of chromosomal abnormalities in pregnancies with abnormal ultrasound findings: an analysis of 117 cases with review of the literature. Prenat. Diag. 12:9-18, 1992. [PubMed: 1557319]
    Index Terms: Abnormal ultrasound

  • Kassai R, Hamada I, Furuta H, Cho K, Abe K, Deng H X, Niikawa N: Penta X syndrome: a case report with review of the literature. AJMG 40:51-56, 1991. [PubMed: 1887850]

  • Leal C A, Belmont J W, Nachtman R, Cantu J M, Medina C.: Parental origin of the extra chromosomes in polysomy X. Hum. Genet. 94:423-426, 1994. [PubMed: 7927341]
    All four X chromosomes in 49,X polysomies (49,XXXXX and 49,XXXXY) were maternal in origin and the extra X chromosomes in 48 X polysomies (48,XXYY and 48,XXXY) were paternal.
    Data support a single mechanism of sequential nondisjunction during either maternal or paternal gametogenesis.
    Index Terms: Nondisjunction

  • Linden M G, Bender B G, Robinson A.: Sex chromosome tetrasomy and pentasomy. Pediatrics 96:672-682, 1995. [PubMed: 7567329]
    Case 3: L.J.
    Presently 15 years old and was karyotyped at the age of 8 years because of MCA.

  • Martini G, Carillo G, Catizone F, Notarangelo A, Mingarelli R, Dallapiccola B: On the parental origin of the X''s in a prenatally diagnosed 49,XXXXX syndrome. Prenat. Diag. 13:763-766, 1993. [PubMed: 8284294]
    Pregnancy was terminated.
    Molecular analysis showed that this aneuploidy arose by successive maternal non-disjunction.
    Index Terms: Nondisjunction ... maternal

  • Moedjono S J, Sly W S, Mouldin L B, Haymond M W: Ketotic hypoglycemia in the penta X and other chromosome imbalance syndromes. Clin. Genet. 14:367-369, 1978. [PubMed: 729199]
    Index Terms: Hypoglycemia,Ketotic hypoglycemia

  • Monheit A, Francke U, Saunders B, Jones K L: The penta-X syndrome. J. Med. Genet. 17:392-396, 1980. [PMC free article: PMC1048607] [PubMed: 7218280]
    Twelfth case with this chromosomal anomaly is reported and malformations include postnatal growth deficiency, microcephaly, developmental delay, ocular hypertelorism, upward slanting palpebral fissures, epicanthal folds, ear anomalies, dental anomalies (delayed eruption, decreased number, irregular placement), short neck, elbow defects (radioulnar synostosis, elbow subluxations, distended peroximal ulna), micronidia, 5th finger clinodactly, low dermal ridge count, positional foot deformities and cardiac defects.
    Index Terms: Clinodactyly,Dental defects,Ears ... malformed,Elbows ... abnormal,Epicanthal folds,Foot ... anomalies,Hypertelorism,Microcephaly,Neck ... short,Ocular (optic) anomalies,Palpebral fissures ... upward slanting,Radioulnar synostosis

  • Mulcahy M T, Stevens J B: Pentasomy of X-chromosome. Lancet 2:1213-1214, 1975. [PubMed: 53701]

  • Saldanha P H, Diament A J, Wajntal A: Penta-X syndrome: a follow-up study. Rev. Brasil Genet. 7:749-766, 1984.
    Patient R.M.A. 030370.

  • Schroeter Ch, Jahrig K, Weinke I: Ein neuer Fall von Pentasomie X. Helv. Paediat. Acta 35:233-241, 1980. [PubMed: 6773908]
    Patient was 12 months old, and was found to have a low birth weight, oligophrenia, multiple abnormalities of the craniofacial skeleton (hypertelorism, epicanthus, broad root of the nose, oblique axis of the eyelids), and some minor deformities of the fingers and toes.
    Index Terms: Epicanthal folds,Eyelid ... oblique axis,Facial dysmorphism,Hypertelorism,Oligophrenia

  • Stella M, Rossi R, Bonfante A, Tezzde A, Rossi G: Studio preliminare su un caso di femmina a cariotipo 49,XXXXX. Atti Assoc. Genet. Ital. 25:267-269, 1980.

  • Toussi T, Halal F, Lesage R, Delorme F, Bergeron A: Renal hypodysplasia and unilateral ovarian agenesis in the penta-X syndrome. AJMG 6:153-162, 1980. [PubMed: 7446561]
    Patient MB, 131175, was 4 years old. A review of earlier 15 cases shows that manifestations include prenatal and postnatal growth delay, mental retardation, hypertelorism, epicanthal folds, upslanted palpebral fissures, depressed nasal bridge, abnormal dentition, short neck, congenital heart disease, simian crease, clinodactyly of fifth fingers, talipes equinovarus, and overlapping toes.
    Index Terms: Clinodactyly,Congenital heart defects (cardiovascular anomalies),Epicanthal folds,Hypertelorism,Neck ... short,Ovarian ... agenesis,Palpebral fissures ... upward slanting,Toes ... overlapping