Trisomy 9 syndrome: Report of a case with Crohn disease and review of the literature

Wolldridge, J; Zuncih, J

doi:10.1002/ajmg.1320560304

Title: Trisomy 9 syndrome: Report of a case with Crohn disease and review of the literature

Full Record
Other Related Research

Abstract

We report on a 6-year-old boy with mosaic trisomy 9. The patient was born at 42 weeks of gestation to a 27-year-old G1 white woman. Birth weight was 2,820 g, length 52 cm, and Apgar scores were 4 and 6 at 1 and 5 min, respectively. The infant presented with apparently low-set ears, overfolded helices, epicanthal folds, prominent nasal bridge, high-arched palate, micrognathia, bilateral dislocated hips, left genu recurvatum, and cryptorchidism. Chromosome analysis showed an unusual karyotype: 47,XY,+inv(9qh+)/47,XY,+mar. The marker chromosome was thought to be a remnant of the inv (9qh+), while the father`s was 46,XY. At age 5 months, the patient developed seizures and gastroesophageal reflux. Crohn disease was diagnosed at age 2 years, although symptoms began at age 1 year. Recurrent bouts of pneumonia have occurred since the patient`s birth. Severe psychomotor retardation was also noted. Trisomy 9 syndrome was first reported in 1973. Over 30 cases have been reported since then. Of these case reports, only 5 patients were older than 1 year. Inflammatory bowel disease has been reported in association with other chromosome abnormalities, but to our knowledge, has not been reported in trisomy 9 syndrome. 39 refs., 4 figs., 2 tabs.

Authors:

Wolldridge, J; Zuncih, J ^[1]

Indiana University School of Medicine, Gary, IN (United States)

Publication Date:: Mon Apr 10 00:00:00 EDT 1995

Sponsoring Org.:: USDOE

OSTI Identifier:: 105292

Resource Type:: Journal Article

Journal Name:: American Journal of Medical Genetics

Additional Journal Information:: Journal Volume: 56; Journal Issue: 3; Other Information: PBD: 10 Apr 1995

Country of Publication:: United States

Language:: English

Subject:: 55 BIOLOGY AND MEDICINE, BASIC STUDIES; INFANTS; CONGENITAL MALFORMATIONS; PHENOTYPE; MENTAL DISORDERS; KARYOTYPE; HUMAN CHROMOSOME 9; CHROMOSOMAL ABERRATIONS; MOSAICISM; BIOLOGICAL MARKERS; DNA HYBRIDIZATION; FLUORESCENCE; BANDING TECHNIQUES

Citation Formats


                    Wolldridge, J, and Zuncih, J. Trisomy 9 syndrome: Report of a case with Crohn disease and review of the literature.  United States: N. p., 1995. 
        Web.  doi:10.1002/ajmg.1320560304.

Copy to clipboard


                    Wolldridge, J, & Zuncih, J. Trisomy 9 syndrome: Report of a case with Crohn disease and review of the literature.  United States.  https://doi.org/10.1002/ajmg.1320560304

Copy to clipboard


                    Wolldridge, J, and Zuncih, J. 1995.  
        "Trisomy 9 syndrome: Report of a case with Crohn disease and review of the literature".  United States.  https://doi.org/10.1002/ajmg.1320560304.

Copy to clipboard


                    
@article{osti_105292,

  title        = {Trisomy 9 syndrome: Report of a case with Crohn disease and review of the literature},

  author       = {Wolldridge, J and Zuncih, J},

  abstractNote = {We report on a 6-year-old boy with mosaic trisomy 9. The patient was born at 42 weeks of gestation to a 27-year-old G1 white woman. Birth weight was 2,820 g, length 52 cm, and Apgar scores were 4 and 6 at 1 and 5 min, respectively. The infant presented with apparently low-set ears, overfolded helices, epicanthal folds, prominent nasal bridge, high-arched palate, micrognathia, bilateral dislocated hips, left genu recurvatum, and cryptorchidism. Chromosome analysis showed an unusual karyotype: 47,XY,+inv(9qh+)/47,XY,+mar. The marker chromosome was thought to be a remnant of the inv (9qh+), while the father`s was 46,XY. At age 5 months, the patient developed seizures and gastroesophageal reflux. Crohn disease was diagnosed at age 2 years, although symptoms began at age 1 year. Recurrent bouts of pneumonia have occurred since the patient`s birth. Severe psychomotor retardation was also noted. Trisomy 9 syndrome was first reported in 1973. Over 30 cases have been reported since then. Of these case reports, only 5 patients were older than 1 year. Inflammatory bowel disease has been reported in association with other chromosome abnormalities, but to our knowledge, has not been reported in trisomy 9 syndrome. 39 refs., 4 figs., 2 tabs.},

  doi          = {10.1002/ajmg.1320560304},

  url          = {https://www.osti.gov/biblio/105292},
  journal      = {American Journal of Medical Genetics},
number       = 3,

  volume       = 56,

  place        = {United States},

  year         = {Mon Apr 10 00:00:00 EDT 1995},

  month        = {Mon Apr 10 00:00:00 EDT 1995}

}

Copy to clipboard

Journal Article:

https://doi.org/10.1002/ajmg.1320560304

Other availability

Find in Google Scholar

Search WorldCat to find libraries that may hold this journal

Save / Share:

Export Metadata

Save to My Library

Similar records in OSTI.GOV collections:

An infant with mos45,X/46,XY/47,XYY/48,XYYY: Genetic and clinical findings

Journal Article Fox, J; Blumenthal, D; Brock, W - American Journal of Human Genetics

We report on an infant with mos45,X/46,XY/47,XYY/48,XYYY who presented with ambiguous genitalia. The patient was the 2,637 gram product of a 38 week gestation and elective repeat C-section born to a 35 year old G3P2 mother. The pregnancy was complicated by placenta previa. There was no history of maternal health problems or drug or steroid use. At birth bilateral epicanthal folds and overfolded helices were noted without webbing of the neck or lymphedema. There was a phallic structure measuring 1.5 cm with dorsal hood and midline cleft with a normal female introitus, urethra, and vagina. Congenital adrenal hyperplaxia was excluded.more »« less
Study of two patients with craniosynostosis and deletions of 11q: One with features of Saethre-Chotzen syndrome and the other with concomitant partial trisomy 4q

Journal Article Morsey, S; Lewanda, A; Reid, C - American Journal of Human Genetics

Partial monosomy 11q is associated with metopic craniosynostosis and trigonocephaly. Prominant features in the over 30 reported cases include downslanting palpebral fissures, epicanthal folds, hypertelorism, ptosis, wide/depressed nasal bridge, low set malformed ears, downturned mouth, micro/retrognathia, digital and cardiac anomalies and psychomotor retardation. We evaluated two patients referred for abnormal head shape. The first carried a diagnosis of Saethre-Chotzen syndrome due to brachycephaly, facial asymmetry, ptosis, cupped ears, sundactyly of 2nd and 3rd digits, developmental delay, and VSD. Karyotype revealed 46,XY,del(11)(q24.1{yields}qter). No abnormality was noted of chromosome 7p, where the Saethre-Chotzen syndrome locus has been mapped. This suggests genetic heterogeneitymore »« less
Phenotypic consequences of a mosaic marker chromosome identified by fluorescence in situ hybridization (FISH) as being derived from chromosome 16

Journal Article Ray, J; Zhou, X; Pletcher, B - American Journal of Human Genetics

De novo marker chromosomes are detected in 1 in 2500 amniotic fluid samples and are associated with a 10-15% risk for phenotypic abnormality. FISH can be utilized as a research tool to identify the origins of marker chromosomes. The phenotypic consequences of a marker chromosome derived from the short arm of chromosome 16 are described. A 26-year-old woman underwent amniocentesis at 28 weeks gestation because of a prenatally diagnosed tetralogy of Fallot. Follow-up ultrasounds also showed ventriculomegaly and cleft lip and palate. 32 of 45 cells had the karyotype 47,XY,+mar; the remaining cells were 46,XY. The de novo marker chromosomemore »« less
Partial trisomy 2q due to a maternal balanced translocation t(2;22) (q31;p12)

Journal Article Steinberg, L; Bleiman, M; Punnett, H - American Journal of Human Genetics

Features consistent among reported patients with 2q duplications due to familial translocations or de novo duplications include pre- and postnatal growth failure, ocular defects such as congenital glaucoma, cardiac defects, micrognathia, urogenital defects, renal defects, connective tissue laxity, neurologic defects, and dermatologic abnormalities. Genotype/phenotype correlations of patients with trisomy 2q due to familial translocations are complicated by the presence of the deletions of the other chromosome involved. We have had the opportunity to observe `pure` trisomy 2q31-qter resulting from adjacent-1 segregation from 46,XX,t(2;22)(q31;p12) in a carrier mother with apparent loss of the 22 NOR region. He was the 2453 gmmore »« less
Liveborn with both partial trisomy of 3q and partial monosomy of 9p

Journal Article Farren-Chavez, D; Guzman, E; Peters, T - American Journal of Human Genetics

A 32-year-old G{sub 3}P{sub 2002} Hispanic female presented at 14 weeks gestation for routine dating ultrasound. At that time ultrasonography revealed a septated cystic hygroma, omphalocele, bilateral talipes equinovarus, and hydrops. Amniocentesis was performed at 15 weeks and revealed a 46,XX,9p+ chromosome complement. The origin of the extra material on the terminal short arm of chromosome 9 could not be identified. Chromosome analysis was performed on the parents and the mother was found to carry the balanced translocation 46,XX,p(3;9)(q23;p13). Further analysis revealed that the fetus had inherited the derivative 9 chromosome. The fetus was therefore monosomic for 9p13-9pter and trisomicmore »« less

Similar Records