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Cri du chat

Cri du chat syndrome, also called deletion 5p syndrome, or 5p minus, is a rare genetic disorder due to a missing portion of chromosome 5. It was first described by Jérôme Lejeune in 1963. The condition affects an estimated 1 in 20,000 to 50,000 live births. The disorder is found in people of all ethnic backgrounds and is slightly more common in females. more...

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Signs and symptoms

Its name, meaning cat cry in French, is from the distinctive mewing sound made by infants with the disorder. As babies, patients tend to be squirmy with a mewing cry, ascribed to abnormal laryngeal development. The cry becomes less distinctive with age. Individuals with cri du chat syndrome are often underweight at birth. The disorder is characterized by distinctive facial features, small head size (microcephaly), low birth weight, weak muscle tone (hypotonia), a round face, epicanthal folds, low set ears, strabismus, facial asymmetry and downward slanting palpebral fissures. Cardiac malformations may occur and affect the vital prognosis. The importance of the whole syndrome seems to vary depending on the amount of lost DNA material.

In terms of development and behaviour, severe mental retardation is typical. Expressive language is an area of weakness, and signing is often used. Hypersensitivity to noise is common. Also, some have autistic traits such as repetitive behaviors and obsessions with certain objects. Apparently, many enjoy pulling hair. They are often happy children, and are described as "loving" and sociable.


Cri du chat syndrome is due to a partial deletion of the short arm of chromosome number 5. Approximately 85% of cases results from a sporadic de novo deletion, while about 15% are due to unequal segregation of a parental chromosome translocation. Although the size of the deletion varies, a deletion at region at 5p15.3 is responsible for the unique cry and the critical region of 5p15.2 is responsible for the other features. The deletion is of paternal origin in about 80% of cases in which the syndrome is de novo. Genetic counseling and genetic testing may be offered to families with cri du chat syndrome.


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When I have to play something I dont like, I grit my teeth, put my
From Evening Standard (London), 8/31/01 by SIMON MILLS

BABY Cassius Morton, daughter of Radio 1 DJ Jo Whiley, is only a few w eeks old, but he already has immaculate taste in music. At the moment, he's been aurallyforce-fed Glen Campbell's haunting Wichita Lineman by his mother.It's either that or Massive Attack's Unfinished Sympathy or Eminem.

These have been fighting for sonic air space chez Whiley with tracks by Travis and Papa Roach, his older sister India's current raves.

India, you understand, is nine now. "She's been through S Club 7 and all that stuff. Now she's much more discerning. She likes the stuff I tell her to like," explains Whiley with a wry grin. Oh, and just in case baby Cass felt like he had missed out on the summer festival scene by, w ell, not actually being alivefor most of it, Whiley, 35, blagged a fistful of laminates and took him and the rest of her family, husband Steve Morton, India and Jude (aged two-and-a- half) to Reading for the w eekend for some more blissful ear damage in the backstage area.

Thereis, how ever, a downside to having such a groovy mother. Until fairly recently, India, who has "formed various bands over the years", was convinced that her DJ mum could work magic - make her groups get to Number One and blag them a slot on Top of the Pops.

Recently,says Whiley, India had a rather shocking epiphany. "She turned to me and said, 'You can't actually do that, can you Mum?'" But Whiley, being a good egg, w ould no doubt promise to listen to the band's demo tape,offer some sound advice and suggest a couple of appropriate independent labels to approach. She's like that,isJo.

EVEN w hile she was pregnant with Cassius, and indeed right up to his birth, Whiley kept up with the music scene by listening to tapes and demos that Radio 1 forwarded to her.Infact, she might well be the only expectant mother in Britain w ho was doing breathing exercises to the new Strokes album. "When I gave birth I had David Gray's This Year's Love playing in my head," she says, helpfully,ever the DJ. Now, after a four-month hiatus, Whiley is back on the radio.

It sounds like hard work being a mother of three and a primetime D J. Whiley had a particularly long day the day before we meet. She didn'tget back to her home near Silverstone, Northamptonshire, until past 1am because she'd been to a Macy Gray gig and ended up at the after-show party.Then it was up at 6am to spend some quality time with Cassius (who's looked after by her granddad during the day), off to the railw ay station at Milton Keynes (which, she insists,rather unconvincingly, is "just like LA") and down to Radio 1 to prepfor her show, which starts at 10am. She doesn't have a routine."I've never been that sortof person, I'm afraid," she says with a sunny smile that sometimes seems too big for her pretty face.

The "indie bird" is strictly daytime now, and she admits that the morning slot is a lot less antisocial on her family (overrunning Macy Gray gigs notwithstanding). "Doing the Evening Session meant thatI never got to tuck India into bed."

But does she ever worry that she's doing a Lorraine Kelly? Has the shoe-gazer'schampion reinvented herself as "Smiley Whiley", kicked off her DMs, betrayed her student roots by taking the playlist- motivated shilling of the coffee- morning slot, just so she can spend more time with her kids?

" Well,it is frustrating sometimes," she admits. "When I have to play something I don'tlike,Igrit my teeth, put my hands over my ears and sing a different song. Then I just say to myself, 'in two records' time I'm going to be able to play the Eels record'. The playlist ain't all that bad, though. It has Spiritualised on itat the moment. Having a daytime show means I'm getting across to far more people than the evening show and introducing new music to a bigger audience." And flying the flag for women DJs,of course.

Older readers may recall that female Radio 1 used to amount to little more than tokens - just the odd Jackie Brambles or Ranking Miss P. Now there are dozens.

There are the ones you know: Whiley, Sara Cox and Dame Annie Nightingale - Maggie Smith to Whiley's Kate Winslet ("You have to admire her stamina and her resourcefulness," she says of Annie) - and lots of new er ones w ho aren'tsofamiliar. Looking at the slightly bashful, moody publicity photos of Nemone, Emma B (belly exposed, tattoo on arm), Sara HB and Vicky Marsden in the Radio 1 foyer,you get the impression that the new ones look up to Whiley in much the same way that she looks up to Nightingale.

In fact, the winner of the 1998 Sony Awardfor DJ of the Year has m a ny industry admirers. In Simon Garfield's excellent book about Radio 1, The Nation's Favourite (Fontana), the station's ex- controller, Matthew Bannister, calls Whiley "real".

"There is no artifice about Jo," says Bannister. "She is genuinely passionate about music but she talks to you as if she is your sister.

She doesn't come across in the overtly,terribly sexy way that so m a ny female DJs do on commercial radio. She can talk about music with a passion and she's another communicator of reality, and I think that's very pow erful." Chris Evans, meanwhile, called her the female DJ "most likely to give you the horn", and Chris Moyles describes Whiley as "the shyest w oman I've ever met".

This comes as no surprise. Moyles and Whiley may be only hours aw ay from each other in terms of programming, but in attitude and approach they are worlds apart.

Whiley is all cool, big sister with a soothing estuary baritone and a Feeder album under her arm; Moyles is the irritating little brother,all beery braggadocio, with a combative Leeds brogue and a hand shoved in his underarm wrenching out farty noises for the entertainment of his row dy studio sycophants.

HER route to the BBC was slightly unconventional, cleverly avoiding the time-honoured hospital-radio apprenticeship. She grew up in a village near Northampton with her mum and dad (village postmistress and music-mad electrician respectively) and sister Frances, w ho suffers from a rare disability known as Cri du Chat syndrome, w hich, Whiley explains, is similar to Dow n's Syndrome. (My sister is m y biggest fan," says Whiley, warmly.

"When I call after a show she alw ays says 'Congratulations!' and 'Hello,Jo Whiley!'") As a teenager, Whiley would hang around Miss Selfridge, where she w ould buy dodgy New Romantic knickerbockers and hope for a glimpse of Bauhaus's Daniel Ash (a local hero) at the makeup counter. At the age of 16, a Clash concert where she lost her plimsolls in the moshpit crush, changed her life for ever.

A Radio 1 Roadshow, how ever,is remembered less fondly. "I met Andy Peebles," she grimaces. "It was quite traumatic. My dad has photos.I think it scarred me for life." Whiley w ent to Brighton Poly to study languages and moonlighted on Radio Sussex. (She could forget any aspirations to getting on air herself, though. The perception at the time was that women's voices were too high and shrill for radio. Whiley puts her own increased bass levels down to hormones.) M oving to London, Whiley got a placement on Radio 4 and worked on Channel 4's execrable yoof prog, Channel X. A stint at BSB follow ed before she landed a job booking bands for The Word. Here, she struck up a friendship with a Radio 1 producer and got a break as a new presenter on the Evening Session.

Her scruffy brand of provincial Miss Selfridgeness was a hit and the rest, as Smashy and Nicey might say,is Radio 1 history.

Her status as a major broadcaster is now assured. Indeed, she'seven getting the now obligatory pervy letters.Take,for instance, the modest chap who sent her a naked, full-length photo of himself with his head cut off. "He was a bit fleshy," says Whiley, wrinkling up her nose and cracking her big trademark smile. "You can have his phone number if you like."

Copyright 2001
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