WordNet

a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
an informal conversation (同)confab, confabulation, schmooze, schmoose
go `ding dong, like a bell (同)dong, dingdong
a ringing sound
failing to detonate; especially not charged with an active explosive; "he stepped on a dud mine"

PrepTutorEJDIC

(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
〈C〉〈U〉《話》(…との)『雑談』,談笑《+『with』+『名』》 / 〈C〉ツグミ類の鳥 / (…について)『談笑する』《+『away』+『about』+『名』》
〈鐘など〉‘を'ガンガン鳴らす / 〈鐘などが〉ガンガン鳴る / (鐘の)ガンガン鳴る音
不発弾 / 《俗》だめな人(物) / 《複数形で》《俗》=clothes
(おもに人称代名詞・固有名詞(人名),thereの後で)had, wouldの短縮形 / (疑問文でwhere,what,whenの後で)didの短縮形;Where'd he go?=Where did he go?

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/07/31 11:41:08」(JST)

wiki en

Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p minus syndrome or Lejeune’s syndrome, is a rare genetic disorder due to a missing part of chromosome 5. Its name is a French term (cat-cry or call of the cat) referring to the characteristic cat-like cry of affected children. It was first described by Jérôme Lejeune in 1963.^[1] The condition affects an estimated 1 in 50,000 live births, strikes all ethnicities, and is more common in females by a 4:3 ratio.^[2]

Signs and symptoms

The syndrome gets its name from the characteristic cry of affected infants, which is similar to that of a meowing kitten, due to problems with the larynx and nervous system. About 1/3 of children lose the cry by age 2. Other symptoms of cri du chat syndrome may include:

feeding problems because of difficulty swallowing and sucking.
low birth weight and poor growth.
severe cognitive, speech, and motor delays.
behavioral problems such as hyperactivity, aggression, tantrums, and repetitive movements.
unusual facial features which may change over time.
excessive drooling.
constipation.

Other common findings include hypotonia, microcephaly, growth retardation, a round face with full cheeks, hypertelorism, epicanthal folds, down-slanting palpebral fissures, strabismus, flat nasal bridge, down-turned mouth, micrognathia, low-set ears, short fingers, single palmar creases, and cardiac defects (e.g., ventricular septal defect [VSD], atrial septal defect [ASD], patent ductus arteriosus [PDA], tetralogy of Fallot). People with Cri du chat are fertile and can reproduce.

Less frequently encountered findings include cleft lip and palate, preauricular tags and fistulas, thymic dysplasia, intestinal malrotation, megacolon, inguinal hernia, dislocated hips, cryptorchidism, hypospadias, rare renal malformations (e.g., horseshoe kidneys, renal ectopia or agenesis, hydronephrosis), clinodactyly of the fifth fingers, talipes equinovarus, pes planus, syndactyly of the second and third fingers and toes, oligosyndactyly, and hyperextensible joints. The syndrome may also include various dermatoglyphics, including transverse flexion creases, distal axial triradius, increased whorls and arches on digits, and a single palmar crease.

Late childhood and adolescence findings include significant intellectual disability, microcephaly, coarsening of facial features, prominent supraorbital ridges, deep-set eyes, hypoplastic nasal bridge, severe malocclusion, and scoliosis.

Affected females reach puberty, develop secondary sex characteristics, and menstruate at the usual time. The genital tract is usually normal in females except for a report of a bicornuate uterus. In males, testes are often small, but spermatogenesis is thought to be normal.

Genetics

Cri du chat syndrome is due to a partial deletion of the short arm of chromosome number 5, also called "5p monosomy". Approximately 90% of cases results from a sporadic, or randomly-occurring, de novo deletion. The remaining 10-15% are due to unequal segregation of a parental balanced translocation where the 5p monosomy is often accompanied by a trisomic portion of the genome. These individuals may have more severe disease than those with isolated monosomy of 5p.

Most cases involve total loss of the most distant 20-10% of the material on the short arm. Fewer than 10% of cases have other rare cytogenetic aberrations (e.g., interstitial deletions, mosaicisms, rings and de novo translocations). The deleted chromosome 5 is paternal in origin in about 80% of de novo cases.

Loss of a small region in band 5p15.2 (cri du chat critical region) correlates with all the clinical features of the syndrome with the exception of the catlike cry, which maps to band 5p15.3 (catlike critical region). The results suggest that 2 noncontiguous critical regions contain genes involved in this condition's etiology. Two genes in these regions, Semaphorine F (SEMA5A) and delta catenin (CTNND2), are potentially involved in cerebral development. The deletion of the telomerase reverse transcriptase (hTERT) gene localized in 5p15.33 may contribute to the phenotypic changes in cri du chat syndrome as well.

Diagnosis and management

Diagnosis is based on the distinctive cry and accompanying physical problems. Genetic counseling and genetic testing may be offered to families with individuals who have cri du chat syndrome. Prenatally the deletion of the Cri du chat related region in the p arm of chromosome 5 can be detected from amniotic fluid or chorionic villi samples with BACs-on-Beads technology. Children may be treated by speech, sound, and occupational therapists. Cardiac abnormalities often require surgical correction.

References

^ Lejeune J, Lafourcade J, Berger R, et al. (1963). "[3 Cases of partial deletion of the short arm of chromosome 5]" (in French). C. R. Hebd. Seances Acad. Sci. 257: 3098–102. PMID 14095841.
^ ped/504 at eMedicine

External links

Spanish Support Group
Australian Support Group
United States Support Group
United Kingdom Support Group
A documentation in word and pictures: 24 years of living with the cri du chat-syndrome

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 先天性の細胞遺伝学的異常 congenital cytogenetic abnormalities
2. 染色体の転座、欠失、および逆位 chromosomal translocations deletions and inversions
3. 微細欠失症候群（12番～22番染色体） microdeletion syndromes chromosomes 12 to 22
4. 幼児および小児における小頭症：病因および評価 microcephaly in infants and children etiology and evaluation
5. 小児における知的障害（精神遅滞）：原因の評価 intellectual disability mental retardation in children evaluation for a cause

English Journal

A time stamp comparative analysis of frequent chromosomal abnormalities in Romanian patients.

Suciu N, Plaiasu V.SourceOMC, Obstetrics&Gynecology Dpt., Lacul Tei Blv., no. 120, sector 2, Bucharest, 020395 Romania.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.J Matern Fetal Neonatal Med.2013 Apr 10. [Epub ahead of print]
Abstract Chromosome abnormalities represent the leading cause in many human genetic disorders. Gain or loss of genetic material can disrupt the normal expression of genes important in fetal development and result in abnormal phenotypes. Approximately 60% of first-trimester spontaneous abortions exhi
PMID 23570267

Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: Prenatal diagnosis and aCGH characterization using uncultured amniocytes.

Chen CP, Huang MC, Chen YY, Chern SR, Wu PS, Su JW, Town DD, Wang W.SourceDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com.
Gene.Gene.2013 Mar 14. pii: S0378-1119(13)00232-1. doi: 10.1016/j.gene.2013.03.003. [Epub ahead of print]
We present prenatal diagnosis of a de novo distal deletion involving 5p(5p15.1→pter) using uncultured amniocytes in a pregnancy with cerebellar hypoplasia, hypospadias and facial dysmorphisms in the fetus. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of C
PMID 23500598

Japanese Journal

Airway evaluation by CT imaging for cri-du-chat syndrome

ARISAKA Hirofumi,SAKURABA Shigeki,MATSUMOTO Masanao,KITAHAMA Homare,FURUYA Munetaka,YOSHIDA Kazu-ichi,TAKEDA Junzo
Journal of anesthesia 20(3), 258-259, 2006-08-20
NAID 10019287496

Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome

ZHANG A
Am J Hum Genet. 72, 940-948, 2003
NAID 30017637357

Related Pictures

★リンクテーブル★

リンク元	「ネコ鳴き症候群」「猫鳴き症候群」
関連記事	「DU」「syndrome」「c」

「ネコ鳴き症候群」

Cri du chat or Cri-du-chat
	Classification and external resources
	; Facial features of a patient with Cri du Chat syndrome at age of 8 months (A), 2 years (B), 4 years (C) and 9 years (D)
ICD-10	Q93.4
ICD-9	758.31
OMIM	123450
DiseasesDB	29133
MedlinePlus	001593
eMedicine	ped/504

　　[★]

英: Cri-du-Chat syndrome, Cri-du-chat syndrome, cri-du-chat syndrome, cat cry syndrome, crying cat syndrome
同: 5番短腕部分欠失症候群、レジュン症候群 Lejeune's syndrome、猫泣き症候群、ネコ泣き症候群、Cri-du-Chat症候群、5p-症候群 5p- syndrome、5p欠失症候群

first aid step1 2006 p.110
5番染色体の短腕の部分的欠失が原因

microcephaly, severe mental retardation, high-pitched crying/mewing, epicanthal folds, cardiac abnormalities.(first aid step1 2006 p.110)
児の鳴き声はネコのようで、小頭症、精神発達遅滞、先天的疾患を有する。(L.15)

「猫鳴き症候群」

　　[★]

英: cri-du-chat syndrome
同: 猫鳴き病 cat cry disease、cry-cat syndrome、5p欠失症候群 5p deletion syndrome、5p-症候群 5p- syndrome、ルジューヌ症候群 Lejeune syndrome

「DU」

　　[★] 十二指腸潰瘍 duodenal ulcer

「syndrome」

　　[★]

n.

症候群

「c」

　　[★]

光速, speed of light

[0] Lejeune J, Lafourcade J, Berger R, et al. (1963). "[3 Cases of partial deletion of the short arm of chromosome 5]" (in French). C. R. Hebd. Seances Acad. Sci. 257: 3098–102. PMID 14095841.

[emedicine-1] ped/504 at eMedicine

匿名

検索

案内

案内

cri-du-chat syndrome