WordNet

utter a characteristic sound; "The cat was crying"
shed tears because of sadness, rage, or pain; "She cried bitterly when she heard the news of his death"; "The girl in the wheelchair wept with frustration when she could not get up the stairs" (同)weep
bring into a particular state by crying; "The little boy cried himself to sleep"
a loud utterance; often in protest or opposition; "the speaker was interrupted by loud cries from the rear of the audience" (同)outcry, call, yell, shout, vociferation
a loud utterance of emotion (especially when inarticulate); "a cry of rage"; "a yell of pain" (同)yell
a fit of weeping; "had a good cry"
the characteristic utterance of an animal; "animal cries filled the night"
proclaim or announce in public; "before we had newspapers, a town crier would cry the news"; "He cried his merchandise in the market square" (同)blazon out
demand immediate action; "This situation is crying for attention"
beat with a cat-o-nine-tails
feline mammal usually having thick soft fur and no ability to roar: domestic cats; wildcats (同)true cat
a spiteful woman gossip; "what a cat she is!"
conspicuously and outrageously bad or reprehensible; "a crying shame"; "an egregious lie"; "flagrant violation of human rights"; "a glaring error"; "gross ineptitude"; "gross injustice"; "rank treachery" (同)egregious, flagrant, glaring, gross, rank
the process of shedding tears (usually accompanied by sobs or other inarticulate sounds); "I hate to hear the crying of a child"; "she was in tears" (同)weeping, tears
a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

(喜び・悲しみ・苦痛などで)『泣く』,涙を流す / 『叫ぶ』《+『out』》 / 〈鳥・獣が〉鳴く,ほえる / …‘と'『叫ぶ』,大声で言う / 〈ニュース〉'を'大声でふれ歩く;〈品物〉'を'呼び売りする / 『叫び[声];(鳥・獣の)鳴き声,ほえ声』 / 『声をあげて泣くこと』,泣き声 / (…に対する,反対する)要求,訴え《+『for』(『against』)+『名』》,(…する)要求《+『to』 do》 / 世論;スローガン,標語
『猫』;(ライオン,トラ,ヒョウなどの)ネコ科の動物
叫ぶ,泣き叫ぶ;泣く,涙を流す / 《名詞の前にのみ用いて》さし迫った,緊急の
clear air turbulence晴天乱流
(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

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/11/11 09:02:47」(JST)

wiki en

Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p− (said minus) syndrome or Lejeune’s syndrome, is a rare genetic disorder due to a missing part (deletion) 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;
small head and jaw;
wide eyes;
skin tags in front of eyes.

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). Infertility is not associated with Cri du chat.

It has also been observed that people with the condition have difficulties communicating. While levels of proficiency can range from a few words to short sentences, it is often recommended by medical professionals for the child to undergo some sort of speech therapy/aid with the help of a professional.

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" or "partial monosomy." Approximately 90% of cases result 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. A recent study suggests this may not be the case where a trisomy of chromosome 4q is involved.^[3]

Most cases involve total loss of the most distant 10-20% 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. These common symptoms are quite easily observed in infants. Affected children are typically diagnosed by a doctor or nurse at birth. 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. G-banded karyotype of a carrier is also useful.^[4] Children may be treated by speech, physical and occupational therapists.^[5] Heart 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]". C. R. Hebd. Seances Acad. Sci. (in French) 257: 3098–102. PMID 14095841.
^ ped/504 at eMedicine
^ http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3539376/
^ "Cri-du-chat Syndrome". Medscape. 11 August 2011. Retrieved 10 August 2012.
^ http://www.biomedcentral.com/content/pdf/1750-1172-1-33.pdf

External links

Cri du chat at DMOZ

UpToDate Contents

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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. 慢性化膿性中耳炎（CSOM）：病因、臨床症状、および診断 chronic suppurative otitis media csom pathogenesis clinical manifestations and diagnosis

English Journal

The association between Cri du chat syndrome and dental anomalies.

Hall C1, Hallett K1, Manton D2.
Journal of dentistry for children (Chicago, Ill.).J Dent Child (Chic).2015 Sep-Dec;81(3):171-7.
Cri du chat syndrome (CdcS), also known as 5p deletion syndrome is a genetic disorder caused by the partial deletion of chromatin from the short arm of chromosome 5. There is a paucity of literature on the dental manifestations in CdcS. The purposes of this report are to present the case of a nine-y
PMID 25514263

Contrasting age related changes in autism spectrum disorder phenomenology in Cornelia de Lange, Fragile X, and Cri du Chat syndromes: Results from a 2.5 year follow-up.

Cochran L, Moss J, Nelson L, Oliver C.
American journal of medical genetics. Part C, Seminars in medical genetics.Am J Med Genet C Semin Med Genet.2015 Jun;169(2):188-97. doi: 10.1002/ajmg.c.31438. Epub 2015 May 18.
Little is known about the way in which the characteristics of autism spectrum disorder (ASD) develop and manifest across the age span in individuals with genetic syndromes. In this study we present findings from a two and a half year follow-up of the characteristics associated with ASD in three synd
PMID 25989416

Peters anomaly in cri-du-chat syndrome.

Hope WC1, Cordovez JA2, Capasso JE2, Hammersmith KM3, Eagle RC4, Lall-Trail J5, Levin AV6.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus.J AAPOS.2015 Jun;19(3):277-9. doi: 10.1016/j.jaapos.2015.01.018.
The cri-du-chat syndrome is a rare genetic disorder caused by deletions in the short arm of chromosome 5. It presents with a distinctive catlike high-pitched cry, psychomotor delays, microcephaly, craniofacial abnormalities, and, in many cases, ocular findings. We report the first child with cri-du-
PMID 26059676

Japanese Journal

A Case of Cat Cry Syndrome Associated with Cleft Lip

KASHIMA Koji,IGAWA Kaori,YOKOTA Rie,YOSHIOKA Izumi,SAKODA Sumio
Oral science international : official journal of the Japanese Stomatological Society 7(2), 72-75, 2010-11-01
NAID 10027680587

猫なき症候群に見られる脊柱側弯症の検討

竹林庸雄,小幡浩之,三名木泰彦,関根将利,井本憲志,横串算敏,山下敏彦
日本整形外科學會雜誌 = The Journal of the Japanese Orthopaedic Association 80(7), 481, 2006-07-25
NAID 10018362253

Scoliosis in cat cry syndrome

TAKEBAYASHI TSUNEO,OBATA HIROYUKI,MINAKI YASUHIKO,SEKINE MASATOSHI,IMOTO KENSHI,YOKOGUSHI KAZUTOSHI,YAMASHITA TOSHIHIKO
Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association 11(3), 259-263, 2006-05-01
NAID 10018151209

Related Pictures

★リンクテーブル★

リンク元	「ネコ鳴き症候群」
関連記事	「CAT」「cat」「Cry」「cry」「syndrome」

「ネコ鳴き症候群」

Cri du chat or Cri-du-chat
	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)
Classification and external resources
Specialty	Medical genetics
ICD-10	Q93.4
ICD-9-CM	758.31
OMIM	123450
DiseasesDB	29133
MedlinePlus	001593
eMedicine	ped/504
Patient UK	Cri du chat

　　[★]

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)