Paracentric inversion of chromosome 7 (46,XX,inv(7)(q21.2q22)) in a newborn with hypoplastic left heart syndrome

Kuforjii, T A; Pillers, D M; Silberbach, M

Title: Paracentric inversion of chromosome 7 (46,XX,inv(7)(q21.2q22)) in a newborn with hypoplastic left heart syndrome

Full Record
Other Related Research

Abstract

Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease that is uniformly fatal without surgical intervention. Fetal echocardiography allows prenatal diagnosis, but this condition may not become apparent until after the mid-second trimester. We report a term baby with severe HLHS who had an 18 week fetal ultrasound that reportedly demonstrated a normal heart. There was no family history of congenital heart disease. She was phenotypically female with no dysmorphic features. Physical examination was otherwise normal. She expired at 48 hours of age. The autopsy was noncontributory. The karyotype was 46,XX, but there was an apparently balanced paracentric inversion of the long arm of chromosome 7 (46,XX,inv(7)(q21.2q22)). The mother`s chromosome study was normal without any inversion, and the father was not available for study. Hypoplastic left heart syndrome has been associated with extracardiac anomalies and chromosomal abnormalities including 45,XO,11q-, and trisomy 18. It has also been reported in 5 members spanning 3 generations of a family with a spectrum of left heart defects suggesting an autosomal dominant pattern with high penetrance. First-degree relatives of infants with HLHS have a thirteen percent incidence of related cardiovascular malformations, a frequency higher than predicted by a multifactorial model of inheritance, suggestingmore »« less

Authors:

Kuforjii, T A; Pillers, D M; Silberbach, M ^[1]

Oregon Health Sciences Univ., Portland, OR (United States); and others

Publication Date:: Thu Sep 01 00:00:00 EDT 1994

OSTI Identifier:: 134596

Report Number(s):: CONF-941009-
Journal ID: AJHGAG; ISSN 0002-9297; TRN: 95:005313-1332

Resource Type:: Journal Article

Journal Name:: American Journal of Human Genetics

Additional Journal Information:: Journal Volume: 55; Journal Issue: Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994

Country of Publication:: United States

Language:: English

Subject:: 55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOME 7; CHROMOSOMAL ABERRATIONS; NEONATES; CARDIOVASCULAR DISEASES; KARYOTYPE; CONGENITAL DISEASES; PHENOTYPE; HEREDITARY DISEASES; ETIOLOGY; BANDING TECHNIQUES; RESOLUTION; DOMINANT MUTATIONS; GENETICS

Citation Formats


                    Kuforjii, T A, Pillers, D M, and Silberbach, M. Paracentric inversion of chromosome 7 (46,XX,inv(7)(q21.2q22)) in a newborn with hypoplastic left heart syndrome.  United States: N. p., 1994. 
        Web.

Copy to clipboard


                    Kuforjii, T A, Pillers, D M, & Silberbach, M. Paracentric inversion of chromosome 7 (46,XX,inv(7)(q21.2q22)) in a newborn with hypoplastic left heart syndrome.  United States.

Copy to clipboard


                    Kuforjii, T A, Pillers, D M, and Silberbach, M. 1994.  
        "Paracentric inversion of chromosome 7 (46,XX,inv(7)(q21.2q22)) in a newborn with hypoplastic left heart syndrome".  United States.

Copy to clipboard


                    
@article{osti_134596,

  title        = {Paracentric inversion of chromosome 7 (46,XX,inv(7)(q21.2q22)) in a newborn with hypoplastic left heart syndrome},

  author       = {Kuforjii, T A and Pillers, D M and Silberbach, M},

  abstractNote = {Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease that is uniformly fatal without surgical intervention. Fetal echocardiography allows prenatal diagnosis, but this condition may not become apparent until after the mid-second trimester. We report a term baby with severe HLHS who had an 18 week fetal ultrasound that reportedly demonstrated a normal heart. There was no family history of congenital heart disease. She was phenotypically female with no dysmorphic features. Physical examination was otherwise normal. She expired at 48 hours of age. The autopsy was noncontributory. The karyotype was 46,XX, but there was an apparently balanced paracentric inversion of the long arm of chromosome 7 (46,XX,inv(7)(q21.2q22)). The mother`s chromosome study was normal without any inversion, and the father was not available for study. Hypoplastic left heart syndrome has been associated with extracardiac anomalies and chromosomal abnormalities including 45,XO,11q-, and trisomy 18. It has also been reported in 5 members spanning 3 generations of a family with a spectrum of left heart defects suggesting an autosomal dominant pattern with high penetrance. First-degree relatives of infants with HLHS have a thirteen percent incidence of related cardiovascular malformations, a frequency higher than predicted by a multifactorial model of inheritance, suggesting that at least a portion of HLHS have a genetic basis. Karyotype analysis, including high resolution banding, may help define the etiology of this condition. Chromosome 7 has not been implicated in HLHS. This case emphasizes the need for genetic analysis, including a pedigree, of affected families. It also underscores the importance of screening by karyotype analysis to determine whether defects of the long arm of chromosome 7 are important in the pathogenesis of hypoplastic left heart syndrome.},

  doi          = {},

  url          = {https://www.osti.gov/biblio/134596},
  journal      = {American Journal of Human Genetics},
number       = Suppl.3,

  volume       = 55,

  place        = {United States},

  year         = {Thu Sep 01 00:00:00 EDT 1994},

  month        = {Thu Sep 01 00:00:00 EDT 1994}

}

Copy to clipboard

Journal Article:

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:

Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4

Journal Article Fryns, J; Schrander-Stumpel, C - American Journal of Medical Genetics

The Kabuki (Niikawa-Kuroki) syndrome is a true MCA/MR (multiple congenital anomaly/mental retardation) syndrome characterized by distinct facial changes, mild to moderate mental retardation, postnatal growth retardation, dermatoglyphic and skeletal anomalies. Recently, we examined a 3-year-old girl with the typical clinical signs and symptoms of the Kabuki make-up syndrome. Prometaphase chromosome studies were performed on 62 cells from two different lymphocyte cultures after G-banding. We documented a paracentric inversion in the short arm of chromosome 4 with breakpoints at 4p12 and 4pter: karyotype: 46,XX,inv(4)(p12pter). The present observation of a paracentric inversion of the short arm of chromosome 4 in a childmore »« less
https://doi.org/10.1002/ajmg.1320530219
Empirical data on 220 families with de novo or inherited paracentric inversions

Journal Article Eyre, J; McConkie-Rosell, A; Tripp, T - American Journal of Human Genetics

Six new cases of paracentric inversions (3 detected prenatally) are presented and added to an expanding database of paracentric inversions. Three inversions were associated with an abnormal phenotype and detected postnatally: inv(2)(p21p23), inv(13)(q14q34), and inv(18)(q12.3q23). The present database of paracentric inversions includes 220 families reported. All chromosomes were involved except chromosome 20. The most frequent inversions were found on chromosomes 1, 3, 7, 11, and 14. 48 index cases had an abnormal phenotype not explainable by other causes such as additional chromosome abnormalities. Of these, 12 were de novo and 36 familial. By contrast, of the 122 index cases withmore »« less
Recombination of an intrachromosomal paracentric insertion of chromosome 3

Journal Article Best, R; Burnett, W; Brock, J - American Journal of Human Genetics

Cytogenetic studies were initiated on a newborn female due to multiple congenital anomalies including microcephaly, clinodactyly, abnormal positioning of hands, left facial palsy, heart defect, sacral dimple, and facial dysmorphic features. Facial features were described as low set rotated ears, nystagmus, and a small, flattened nose. A structural rearrangement of the long arm of chromosome 3 was observed with a complex banding pattern. Study of parental chromosomes revealed a normal male pattern for the father, and an intrachromosomal insertion on the long arm of chromosome 3 for the mother described as 46,XX,dir ins(3)(q21q23q26.2). Further characterization of the proband`s structurally abnormalmore »« less
CHARGE association in a child with de novo inv dup (14)(q22{yields}q24.3)

Journal Article North, K; Wu, B; Whiteman, D - American Journal of Human Genetics

The CHARGE association is an increasingly recognized complex of multiple malformations, that include Coloboma, Heart defect, choanal Atresia, Retardation of mental and somatic development, hypoplastic Genitalia, and Ear abnormalities or deafness. It has been postulated that many of the defects result from abnormalities in the development, migration or interaction of cells of the cephalic neural crest. The majority of cases are sporadic. We report a case of an inverted duplication (14)(q22{yields}q24.3) associated with CHARGE association. The patient was a 4 {1/2}-year-old female and was the product of a normal pregnancy. Family history was unremarkable. The clinical manifestations included the combinationmore »« less
Tetralogy of Fallot associated with deletion in the DiGeorge region of chromosome 22 (22q11)

Journal Article D`Angelo, J; Pillers, D; Jett, P - American Journal of Human Genetics

Cardiac conotruncal defects, such as Tetralogy of Fallot (TOF), are associated with DiGeorge syndrome which has been mapped to the q11 region of chromosome 22 and includes abnormalities of neural crest and branchial arch development. Patients with conotruncal defects and velo-cardio-facial syndrome may have defects in the 22q11 region but not show the complete DiGeorge phenotype consisting of cardiac, thymus, and parathyroid abnormalities. We report two neonates with TOF and small deletions in the DiGeorge region of chromosome 22 (46,XX,del(22)(q11.21q11.23) and 46,XY,del(22)(q11.2q11.2)) using both high-resolution cytogenetics and fluorescence in situ hybridization (FISH). The first patient is a female with TOFmore »« less

Similar Records