Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: Review of distal 7q deletions

Eric T. Rush, Jadd M. Stevens, Warren G. Sanger, Ann H. Olney

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

The use of aCGH has improved our ability to find subtle cytogenetic abnormalities as well as to find more precise information in patients with previously known abnormalities. In addition, it has allowed more specific genotype-phenotype correlation. In this report we describe a patient with a chromosomal deletion initially diagnosed with conventional cytogenetic analysis which was redemonstrated and more specifically described upon aCGH analysis. Our patient is a 12-year-old female born to a 26-year-old G1P0 mother. She was noted as a neonate to have a bilateral cleft lip and cleft palate, abnormal external ears, dysmorphic facies, and moderate to severe hearing loss. She has subsequently shown developmental delay, hyperreflexia, seizures, hyperactivity, and absence of speech. Chromosomal analysis showed deletion of 7q34q36.1. FISH studies confirmed the deletion was interstitial. Parental chromosomes were performed and did not show any cytogenetic abnormalities. aCGH was recently performed for the patient to further characterize the breakpoints of the deletion and confirmed the deletion was interstitial and of 13.2Mb in size. Both proximal and terminal 7q deletion show a different phenotype than that of our patient. A number of patients with similar deletions have been found and while significant variability is observed, a number of findings appear to be common to deletions in this region. Therefore, we feel that distal interstitial deletions of chromosome 7q represent a recognizable phenotype and could be considered a separate deletion syndrome.

Original languageEnglish (US)
Pages (from-to)1726-1732
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume161
Issue number7
DOIs
StatePublished - Jul 1 2013

Fingerprint

Cleft Lip
Cleft Palate
Hearing Loss
Growth
Chromosome Aberrations
External Ear
Phenotype
Absence Epilepsy
Abnormal Reflexes
Chromosome Deletion
Aptitude
Cytogenetic Analysis
Genetic Association Studies
Chromosomes
Mothers
Newborn Infant

Keywords

  • 7q deletion
  • ACGH
  • Absent speech
  • Cleft lip
  • Cytogenetic abnormality
  • Developmental delay
  • Hearing loss
  • Seizure disorder

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1 : Review of distal 7q deletions. / Rush, Eric T.; Stevens, Jadd M.; Sanger, Warren G.; Olney, Ann H.

In: American Journal of Medical Genetics, Part A, Vol. 161, No. 7, 01.07.2013, p. 1726-1732.

Research output: Contribution to journalArticle

@article{8acf298663f347a88d1e59e77c2a9c4f,
title = "Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: Review of distal 7q deletions",
abstract = "The use of aCGH has improved our ability to find subtle cytogenetic abnormalities as well as to find more precise information in patients with previously known abnormalities. In addition, it has allowed more specific genotype-phenotype correlation. In this report we describe a patient with a chromosomal deletion initially diagnosed with conventional cytogenetic analysis which was redemonstrated and more specifically described upon aCGH analysis. Our patient is a 12-year-old female born to a 26-year-old G1P0 mother. She was noted as a neonate to have a bilateral cleft lip and cleft palate, abnormal external ears, dysmorphic facies, and moderate to severe hearing loss. She has subsequently shown developmental delay, hyperreflexia, seizures, hyperactivity, and absence of speech. Chromosomal analysis showed deletion of 7q34q36.1. FISH studies confirmed the deletion was interstitial. Parental chromosomes were performed and did not show any cytogenetic abnormalities. aCGH was recently performed for the patient to further characterize the breakpoints of the deletion and confirmed the deletion was interstitial and of 13.2Mb in size. Both proximal and terminal 7q deletion show a different phenotype than that of our patient. A number of patients with similar deletions have been found and while significant variability is observed, a number of findings appear to be common to deletions in this region. Therefore, we feel that distal interstitial deletions of chromosome 7q represent a recognizable phenotype and could be considered a separate deletion syndrome.",
keywords = "7q deletion, ACGH, Absent speech, Cleft lip, Cytogenetic abnormality, Developmental delay, Hearing loss, Seizure disorder",
author = "Rush, {Eric T.} and Stevens, {Jadd M.} and Sanger, {Warren G.} and Olney, {Ann H.}",
year = "2013",
month = "7",
day = "1",
doi = "10.1002/ajmg.a.35951",
language = "English (US)",
volume = "161",
pages = "1726--1732",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "7",

}

TY - JOUR

T1 - Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1

T2 - Review of distal 7q deletions

AU - Rush, Eric T.

AU - Stevens, Jadd M.

AU - Sanger, Warren G.

AU - Olney, Ann H.

PY - 2013/7/1

Y1 - 2013/7/1

N2 - The use of aCGH has improved our ability to find subtle cytogenetic abnormalities as well as to find more precise information in patients with previously known abnormalities. In addition, it has allowed more specific genotype-phenotype correlation. In this report we describe a patient with a chromosomal deletion initially diagnosed with conventional cytogenetic analysis which was redemonstrated and more specifically described upon aCGH analysis. Our patient is a 12-year-old female born to a 26-year-old G1P0 mother. She was noted as a neonate to have a bilateral cleft lip and cleft palate, abnormal external ears, dysmorphic facies, and moderate to severe hearing loss. She has subsequently shown developmental delay, hyperreflexia, seizures, hyperactivity, and absence of speech. Chromosomal analysis showed deletion of 7q34q36.1. FISH studies confirmed the deletion was interstitial. Parental chromosomes were performed and did not show any cytogenetic abnormalities. aCGH was recently performed for the patient to further characterize the breakpoints of the deletion and confirmed the deletion was interstitial and of 13.2Mb in size. Both proximal and terminal 7q deletion show a different phenotype than that of our patient. A number of patients with similar deletions have been found and while significant variability is observed, a number of findings appear to be common to deletions in this region. Therefore, we feel that distal interstitial deletions of chromosome 7q represent a recognizable phenotype and could be considered a separate deletion syndrome.

AB - The use of aCGH has improved our ability to find subtle cytogenetic abnormalities as well as to find more precise information in patients with previously known abnormalities. In addition, it has allowed more specific genotype-phenotype correlation. In this report we describe a patient with a chromosomal deletion initially diagnosed with conventional cytogenetic analysis which was redemonstrated and more specifically described upon aCGH analysis. Our patient is a 12-year-old female born to a 26-year-old G1P0 mother. She was noted as a neonate to have a bilateral cleft lip and cleft palate, abnormal external ears, dysmorphic facies, and moderate to severe hearing loss. She has subsequently shown developmental delay, hyperreflexia, seizures, hyperactivity, and absence of speech. Chromosomal analysis showed deletion of 7q34q36.1. FISH studies confirmed the deletion was interstitial. Parental chromosomes were performed and did not show any cytogenetic abnormalities. aCGH was recently performed for the patient to further characterize the breakpoints of the deletion and confirmed the deletion was interstitial and of 13.2Mb in size. Both proximal and terminal 7q deletion show a different phenotype than that of our patient. A number of patients with similar deletions have been found and while significant variability is observed, a number of findings appear to be common to deletions in this region. Therefore, we feel that distal interstitial deletions of chromosome 7q represent a recognizable phenotype and could be considered a separate deletion syndrome.

KW - 7q deletion

KW - ACGH

KW - Absent speech

KW - Cleft lip

KW - Cytogenetic abnormality

KW - Developmental delay

KW - Hearing loss

KW - Seizure disorder

UR - http://www.scopus.com/inward/record.url?scp=84879462711&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84879462711&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.35951

DO - 10.1002/ajmg.a.35951

M3 - Article

C2 - 23696251

AN - SCOPUS:84879462711

VL - 161

SP - 1726

EP - 1732

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 7

ER -