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CHAPTER IV RESULTS AND DISCUSSION
IV.1 Clinical Findings
Clinical examination was performed in Indonesian samples based on standarized protocols from Radboud University of Nijmegen Appendix 1. A
detailed description of antropometry parameters and dysmorphisms also described in the form. In four families, the pedigree and clinical examinations were
compatible with syndromic XLMR table 3. Six families presented with non syndromic XLMR. Main clinical features in the syndromic XLMR families were
hydrocephalus family P03-0452 and 13753HC, hypomyelination family W092-053 and overgrowth features family DF27004 table 4.
Table 4 . Summary of Dysmorphological Features
Family Number
Indonesian Dutch
Syndromic Non Syndromic
Dysmorphological Features
P03-0452 Dutch
Syndromic mental retardation, congenital
hydrocephalus, short stature, obesity, hypogonadism
13753HC Dutch
Syndromic mental retardation, congenital
hydrocephalus W92-053
Dutch Syndromic
mental retardation, blindness, convulsion, spasticity, early death,
hypomyelination DF27004
Dutch Syndromic
Mental retardation, macrocephaly, hepatomegaly, kidney enlargement
W09-0071 Indonesian
Non Syndromic mental retardation, sandal gap, flat
foot, high arched palate, tappering pad, short third toe
W09-0072 Indonesian
Non Syndromic mental retardation, prominent ear,
long face, broad nasal bridge W09-0074
Indonesian Non Syndromic
mental retardation, prominent ear, macroorchidism
W09-0078 Indonesian
Non Syndromic Mental retardation, long face, heavy
eyebrow, prominent ears, sandal gap, pes planus
W08-2152 Dutch
Non Syndromic Mental retardation, autism, epilepsy,
long narrow face, deep set eyes, high nasal bridge, macroorchidism,
short fifth metatarsal, long finger and toes
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Family Number
Indonesian Dutch
Syndromic Non Syndromic
Dysmorphological Features
W07-604 Dutch
Non Syndromic Mild to moderate mental retardation,
behavioral problems
IV.2 Conventional Cytogenetic analysis
Conventional cytogenetic analysis was performed in all Indonesian and Dutch samples. None of the affected probands showed any macroscopic
choromosomal abnormalities.
IV.3 Fragile-X exclusion test
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