Programming

*RECORD*
*FIELD* NO
100050
*FIELD* TI
100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT
*FIELD* TX

Advice for forum posts, general:

To obtain the best answers quickly for processing datasets --
extracting, transforming, filtering, you should, after having
searched for answers (man pages, Google, etc.):

1. Post representative samples of your data (i.e.  data that
should "succeed" and data that should "fail")

2. Post what you expect the results to be, in addition to
describing them.  Be clear about how the results are to be
obtained, e.g.  "add field 2 from file1 to field 3 from file2",
"delete all lines that contain 'possum', etc. 

3. Post what you have attempted to do so far.  Post scripts,
programs, etc.  within CODE tags.  If you have a specific
question about an error, please post the shortest example of the
code, script, etc. that exhibits the problem. 

4. Place the data and expected output within CODE tags, so that
they are more easily readable. 

Special cases, exceptions, etc., are very important to include
in the samples.

#!/usr/bin/perl

use strict;
use warnings;
while(<DATA>){
        if (/^\*FIELD\*\sTI$/){
                my $gene_record=readline(DATA);
                print $gene_record;
        }
}
__DATA__
*RECORD*
*FIELD* NO
100050
*FIELD* TI
100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT
*FIELD* TX

 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT
*100725 CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE
;;ACETYLCHOLINE RECEPTOR, MUSCLE, EPSILON SUBUNIT; ACHRE

RECORD*
*FIELD* NO
100050
*FIELD* TI
100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT
*FIELD* TX
Grier et al. (1983) reported father and 2 sons with typical Aarskog
syndrome, including short stature, hypertelorism, and shawl scrotum.
They tabulated the findings in 82 previous cases. X-linked recessive
inheritance has repeatedly been suggested (see 305400). The family
reported by Welch (1974) had affected males in 3 consecutive
generations. Thus, there is either genetic heterogeneity or this is an
autosomal dominant with strong sex-influence and possibly ascertainment
bias resulting from use of the shawl scrotum as a main criterion.
Stretchable skin was present in the cases of Grier et al. (1983).

Teebi et al. (1993) reported the case of an affected mother and 4 sons
(including a pair of monozygotic twins) by 2 different husbands. They
suggested that the manifestations were as severe in the mother as in the
sons and that this suggested autosomal dominant inheritance. Actually,
the mother seemed less severely affected, compatible with X-linked
inheritance.

*FIELD* RF
1. Grier, R. E.; Farrington, F. H.; Kendig, R.; Mamunes, P.: Autosomal
dominant inheritance of the Aarskog syndrome. Am. J. Med. Genet. 15:
39-46, 1983.

2. Teebi, A. S.; Rucquoi, J. K.; Meyn, M. S.: Aarskog syndrome: report
of a family with review and discussion of nosology. Am. J. Med. Genet. 46:
501-509, 1993.

3. Welch, J. P.: Elucidation of a 'new' pleiotropic connective tissue
disorder. Birth Defects Orig. Art. Ser. X(10): 138-146, 1974.

*FIELD* CS

Growth:
   Mild to moderate short stature

Head:
   Normocephaly

Hair:
   Widow's peak

Facies:
   Maxillary hypoplasia;
   Broad nasal bridge;
   Anteverted nostrils;
   Long philtrum;
   Broad upper lip;
   Curved linear dimple below the lower lip

Eyes:
   Hypertelorism;
   Ptosis;
   Down-slanted palpebral fissures;
   Ophthalmoplegia;
   Strabismus;
   Hyperopic astigmatism;
   Large cornea

Ears:
   Floppy ears;
   Lop-ears

Mouth:
   Cleft lip/palate

GU:
   Shawl scrotum;
   Saddle-bag scrotum;
   Cryptorchidism

Limbs:
   Brachydactyly;
   Digital contractures;
   Clinodactyly;
   Mild syndactyly;
   Transverse palmar crease;
   Lymphedema of the feet